메뉴 건너뛰기




Volumn 3, Issue 1, 2008, Pages

Centronuclear (myotubular) myopathy

Author keywords

[No Author keywords available]

Indexed keywords

MYOTUBULARIN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE; UNCLASSIFIED DRUG;

EID: 54849411236     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-3-26     Document Type: Review
Times cited : (249)

References (162)
  • 3
    • 0024493023 scopus 로고
    • Congenital nemaline myopathy: A longitudinal study
    • University of Helsinki, Commentationes Physico-Mathematicae1990 111/1990. Dissertationes 30: 102. 10.1016/0022-510X(89)90002-6. 2926439
    • Congenital nemaline myopathy: a longitudinal study. C Wallgren-Pettersson, J Neurol Sci University of Helsinki, Commentationes Physico-Mathematicae1990 111/1990 1989 89 1 1 14 Dissertationes 30: 102 10.1016/0022-510X(89)90002-6 2926439
    • (1989) J Neurol Sci , vol.89 , Issue.1 , pp. 1-14
    • Wallgren-Pettersson, C.1
  • 4
    • 0030042419 scopus 로고    scopus 로고
    • The prevalence of inherited neuromuscular disease in Northern Ireland
    • 10.1016/0960-8966(94)00017-4. 8845721
    • The prevalence of inherited neuromuscular disease in Northern Ireland. MI Hughes EM Hicks NC Nevin VH Patterson, Neuromuscul Disord 1996 6 69 73 10.1016/0960-8966(94)00017-4 8845721
    • (1996) Neuromuscul Disord , vol.6 , pp. 69-73
    • Hughes, M.I.1    Hicks, E.M.2    Nevin, N.C.3    Patterson, V.H.4
  • 5
    • 0033989832 scopus 로고    scopus 로고
    • Neuromuscular disorders in childhood: A descriptive epidemiological study from Western Sweden
    • 10.1016/S0960-8966(99)00055-3. 10677857
    • Neuromuscular disorders in childhood: a descriptive epidemiological study from Western Sweden. N Darin M Tulinius, Neuromuscul Disord 2000 10 1 9 10.1016/S0960-8966(99)00055-3 10677857
    • (2000) Neuromuscul Disord , vol.10 , pp. 1-9
    • Darin, N.1    Tulinius, M.2
  • 8
    • 0016815327 scopus 로고
    • X-linked myotubular myopathy with fatal neonatal asphyxia
    • 1168872
    • X-linked myotubular myopathy with fatal neonatal asphyxia. PG Barth GK van Wijngaarden J Bethlem, Neurology 1975 25 531 536 1168872
    • (1975) Neurology , vol.25 , pp. 531-536
    • Barth, P.G.1    Van Wijngaarden, G.K.2    Bethlem, J.3
  • 9
    • 0021673412 scopus 로고
    • X-linked recessive myotubular myopathy. I. Clinical and pathologic findings in a family
    • 10.1016/S0046-8177(84)80011-8. 6539297
    • X-linked recessive myotubular myopathy. I. Clinical and pathologic findings in a family. MW Ambler C Neave BG Tutschka SM Pueschel JM Orson DB Singer, Hum Pathol 1984 15 566 574 10.1016/S0046-8177(84)80011-8 6539297
    • (1984) Hum Pathol , vol.15 , pp. 566-574
    • Ambler, M.W.1    Neave, C.2    Tutschka, B.G.3    Pueschel, S.M.4    Orson, J.M.5    Singer, D.B.6
  • 10
    • 0022411641 scopus 로고
    • Congenital centronuclear (myotubular) myopathy: A clinical, pathological and genetic study in eight children
    • 10.1093/brain/108.4.941. 4075080
    • Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children. JZ Heckmatt CA Sewry D Hodes V Dubowitz, Brain 1985 108 941 964 10.1093/brain/108.4.941 4075080
    • (1985) Brain , vol.108 , pp. 941-964
    • Heckmatt, J.Z.1    Sewry, C.A.2    Hodes, D.3    Dubowitz, V.4
  • 11
    • 0023263389 scopus 로고
    • X-linked myotubular myopathy: Intrafamilial variability and normal muscle biopsy in a heterozygous female
    • 3652496
    • X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female. LD Keppen MM Husain RC Woody, Clin Genet 1987 32 95 99 3652496
    • (1987) Clin Genet , vol.32 , pp. 95-99
    • Keppen, L.D.1    Husain, M.M.2    Woody, R.C.3
  • 14
    • 0025331995 scopus 로고
    • Centronuclear myopathy and type 1 hypotrophy without central nuclei. Distinct nososlogic entities?
    • 2310312
    • Centronuclear myopathy and type 1 hypotrophy without central nuclei. Distinct nososlogic entities? WD Lo RJ Barohn RJ Bobulski Bobulski J Kean JR Mendell, Arch Neurol 1990 47 273 276 2310312
    • (1990) Arch Neurol , vol.47 , pp. 273-276
    • Lo, W.D.1    Barohn, R.J.2    Bobulski, R.J.3    Bobulski4    Kean, J.5    Mendell, J.R.6
  • 15
    • 0025911043 scopus 로고
    • Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy
    • 10.1002/ajmg.1320390105. 1867257
    • Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy. GN Breningstall WD Grover HG Marks, Am J Med Genet 1991 39 1 13 18 10.1002/ajmg.1320390105 1867257
    • (1991) Am J Med Genet , vol.39 , Issue.1 , pp. 13-18
    • Breningstall, G.N.1    Grover, W.D.2    Marks, H.G.3
  • 16
    • 0026684417 scopus 로고
    • X-linked myotubular myopathy: A case report of prenatal and perinatal aspects
    • 10.3109/15513819209024203. 1409152
    • X-linked myotubular myopathy: a case report of prenatal and perinatal aspects. RW Tyson SP Ringel DK Manchester RH Shikes SI Goodman, Pediatr Pathol 1992 12 535 543 10.3109/15513819209024203 1409152
    • (1992) Pediatr Pathol , vol.12 , pp. 535-543
    • Tyson, R.W.1    Ringel, S.P.2    Manchester, D.K.3    Shikes, R.H.4    Goodman, S.I.5
  • 17
    • 0028137765 scopus 로고
    • Report on the 20th ENMC sponsored international workshop: Myotubular/centronuclear myopathy
    • 10.1016/0960-8966(94)90050-7. 8173354
    • Report on the 20th ENMC sponsored international workshop: myotubular/centronuclear myopathy. C Wallgren-Pettersson N Thomas, Neuromuscul Disord 1994 4 71 74 10.1016/0960-8966(94)90050-7 8173354
    • (1994) Neuromuscul Disord , vol.4 , pp. 71-74
    • Wallgren-Pettersson, C.1    Thomas, N.2
  • 18
    • 0029023971 scopus 로고
    • The myotubular myopathies: Differential diagnosis of the X-linked recessive, autosomal dominant and autosomal recessive forms and present state of DNA studies
    • 8544184
    • The myotubular myopathies: differential diagnosis of the X-linked recessive, autosomal dominant and autosomal recessive forms and present state of DNA studies. C Wallgren-Pettersson A Clarke F Samson M Fardeau V Dubowitz H Moser T Grimm RJ Barohn PG Barth, J Med Genet 1995 32 673 679 8544184
    • (1995) J Med Genet , vol.32 , pp. 673-679
    • Wallgren-Pettersson, C.1    Clarke, A.2    Samson, F.3    Fardeau, M.4    Dubowitz, V.5    Moser, H.6    Grimm, T.7    Barohn, R.J.8    Barth, P.G.9
  • 20
    • 0020641523 scopus 로고
    • Thin ribs on chest X-ray: A useful sign in the differential diagnosis of the floppy newborn
    • 6873496
    • Thin ribs on chest X-ray: a useful sign in the differential diagnosis of the floppy newborn. JP Osborne EG Murphy A Hill, Dev Med Child Neurol 1983 25 343 345 6873496
    • (1983) Dev Med Child Neurol , vol.25 , pp. 343-345
    • Osborne, J.P.1    Murphy, E.G.2    Hill, A.3
  • 21
    • 0027286380 scopus 로고
    • 3 examples of fetal genetic neuromuscular disorders which lead to hydramnion
    • 8492834
    • 3 examples of fetal genetic neuromuscular disorders which lead to hydramnion. AH Teeuw PG Barth L van Sonderen HA Zondervan, Ned Tijdschr Geneeskd 1993 137 908 913 8492834
    • (1993) Ned Tijdschr Geneeskd , vol.137 , pp. 908-913
    • Teeuw, A.H.1    Barth, P.G.2    Van Sonderen, L.3    Zondervan, H.A.4
  • 22
    • 0031960938 scopus 로고    scopus 로고
    • X-linked myotubular myopathy - A long-term follow up study
    • 10.1016/1090-3798(98)01004-9
    • X-linked myotubular myopathy - A long-term follow up study. PG Barth V Dubowitz, Eur J Ped Neurol 1998 1 49 56 10.1016/1090-3798(98)01004-9
    • (1998) Eur J Ped Neurol , vol.1 , pp. 49-56
    • Barth, P.G.1    Dubowitz, V.2
  • 23
    • 0023724342 scopus 로고
    • High stature in neonatal myotubular myopathy
    • 10.1111/j.1651-2227.1988.tb10714.x. 3394519
    • High stature in neonatal myotubular myopathy. J-C LeGuennec J-P Bernier J Lamarche, Acta Paediatr Scand 1988 77 610 611 10.1111/j.1651-2227.1988.tb10714. x 3394519
    • (1988) Acta Paediatr Scand , vol.77 , pp. 610-611
    • Leguennec, J.-C.1    Bernier, J.-P.2    Lamarche, J.3
  • 24
    • 0028787506 scopus 로고
    • X-linked myotubular myopathy: Clinical observations in ten additional cases
    • 10.1002/ajmg.1320590211. 8588581
    • X-linked myotubular myopathy: clinical observations in ten additional cases. M Joseph GS Pai KR Holden G Herman, Am J Med Genet 1995 59 168 173 10.1002/ajmg.1320590211 8588581
    • (1995) Am J Med Genet , vol.59 , pp. 168-173
    • Joseph, M.1    Pai, G.S.2    Holden, K.R.3    Herman, G.4
  • 25
    • 0019837342 scopus 로고
    • Neonatal myotubular myopathy: Neuropathy and failure of postnatal maturation of fetal muscle
    • 7326611
    • Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle. HB Sarnat SI Roth JF Jimenez, Can J Neurol Sci 1981 8 313 320 7326611
    • (1981) Can J Neurol Sci , vol.8 , pp. 313-320
    • Sarnat, H.B.1    Roth, S.I.2    Jimenez, J.F.3
  • 26
    • 0032986873 scopus 로고    scopus 로고
    • Medical complications in long-term survivors with X-linked myotubular myopathy
    • 10.1016/S0022-3476(99)70417-8. 9931531
    • Medical complications in long-term survivors with X-linked myotubular myopathy. GE Herman M Finegold W Zhao B de Gouyon A Metzenberg, J Pediatr 1999 134 206 214 10.1016/S0022-3476(99)70417-8 9931531
    • (1999) J Pediatr , vol.134 , pp. 206-214
    • Herman, G.E.1    Finegold, M.2    Zhao, W.3    De Gouyon, B.4    Metzenberg, A.5
  • 27
    • 0042131676 scopus 로고    scopus 로고
    • X-linked myotubular myopathy in a family with three adult survivors
    • 10.1034/j.1399-0004.2003.00118.x. 12859411
    • X-linked myotubular myopathy in a family with three adult survivors. S Yu J Manson S White A Bourne H Waddy M Davis E Haan, Clin Genet 2003 64 148 152 10.1034/j.1399-0004.2003.00118.x 12859411
    • (2003) Clin Genet , vol.64 , pp. 148-152
    • Yu, S.1    Manson, J.2    White, S.3    Bourne, A.4    Waddy, H.5    Davis, M.6    Haan, E.7
  • 29
    • 0043016347 scopus 로고    scopus 로고
    • Unusual good prognosis for X-linked myotubular myopathy
    • 10.1016/S0929-693X(03)00287-2. 12922003
    • Unusual good prognosis for X-linked myotubular myopathy. S Chanzy MC Routon S Moretti C de Gennes JC Mselati, Arch Pediatr 2003 10 707 709 10.1016/S0929-693X(03)00287-2 12922003
    • (2003) Arch Pediatr , vol.10 , pp. 707-709
    • Chanzy, S.1    Routon, M.C.2    Moretti, S.3    De Gennes, C.4    Mselati, J.C.5
  • 32
    • 0026099236 scopus 로고
    • Centronuclear myopathy heterogeneity: Distinction of clinical types by myosin isoform patterns
    • 1824643
    • Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns. JA Sawchak JH Sher MG Norman RW Kula SA Shafiq, Neurology 1991 41 135 140 1824643
    • (1991) Neurology , vol.41 , pp. 135-140
    • Sawchak, J.A.1    Sher, J.H.2    Norman, M.G.3    Kula, R.W.4    Shafiq, S.A.5
  • 33
    • 0033966316 scopus 로고    scopus 로고
    • A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy
    • 10.1016/S0960-8966(99)00073-5. 10714588
    • A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy. SR Hammans DO Robinson C Moutou CR Kennedy NR Dennis PJ Hughes DW Ellison, Neuromuscul Disord 2000 10 133 137 10.1016/S0960-8966(99) 00073-5 10714588
    • (2000) Neuromuscul Disord , vol.10 , pp. 133-137
    • Hammans, S.R.1    Robinson, D.O.2    Moutou, C.3    Kennedy, C.R.4    Dennis, N.R.5    Hughes, P.J.6    Ellison, D.W.7
  • 34
    • 54849411580 scopus 로고    scopus 로고
    • Report of the 72nd ENMC International Workshop on Myotubular Myopathy, Hilversum, the Netherlands, 1-3 October 1999
    • Report of the 72nd ENMC International Workshop on Myotubular Myopathy, Hilversum, The Netherlands, 1-3 October 1999. C Wallgren-Pettersson, Neuromuscul Disord 2000 10 521 525
    • (2000) Neuromuscul Disord , vol.10 , pp. 521-525
    • Wallgren-Pettersson, C.1
  • 35
    • 0032908834 scopus 로고    scopus 로고
    • Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother
    • 10.1007/s004390050943. 10323249
    • Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother. SM Tanner KH Orstavik M Kristiansen D Lev T Lerman-Sagie M Sadeh S Liechti-Gallati, Hum Genet 1999 104 249 253 10.1007/s004390050943 10323249
    • (1999) Hum Genet , vol.104 , pp. 249-253
    • Tanner, S.M.1    Orstavik, K.H.2    Kristiansen, M.3    Lev, D.4    Lerman-Sagie, T.5    Sadeh, M.6    Liechti-Gallati, S.7
  • 36
    • 0035845707 scopus 로고    scopus 로고
    • Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations
    • 11552027
    • Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations. IJ Sutton JB Winer AN Norman S Liechti-Gallati F MacDonald, Neurology 2001 57 900 902 11552027
    • (2001) Neurology , vol.57 , pp. 900-902
    • Sutton, I.J.1    Winer, J.B.2    Norman, A.N.3    Liechti-Gallati, S.4    MacDonald, F.5
  • 38
    • 0037461284 scopus 로고    scopus 로고
    • X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation
    • 10.1001/archneur.60.10.1363. 12707446
    • X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation. U Schara W Kress J Tucke W Mortier, Neurology 2003 60 1363 1365 10.1001/archneur.60.10.1363 12707446
    • (2003) Neurology , vol.60 , pp. 1363-1365
    • Schara, U.1    Kress, W.2    Tucke, J.3    Mortier, W.4
  • 41
    • 0025731916 scopus 로고
    • Centronuclear myopathy: Clinical, morphological and genetic characters. a review of 288 cases
    • 10.1016/0022-510X(91)90275-C. 1865227
    • Centronuclear myopathy: clinical, morphological and genetic characters. A review of 288 cases. MS De Angelis L Palmucci M Leone C Doriguzzi, J Neurol Sci 1991 103 2 9 10.1016/0022-510X(91)90275-C 1865227
    • (1991) J Neurol Sci , vol.103 , pp. 2-9
    • De Angelis, M.S.1    Palmucci, L.2    Leone, M.3    Doriguzzi, C.4
  • 42
    • 0013271311 scopus 로고
    • Familial centronuclear myopathy: A clinical and pathological study
    • 15088533
    • Familial centronuclear myopathy: a clinical and pathological study. JH Sher AB Rimalovski TJ Athanassiades SM Aronson, Neurology 1967 17 727 742 15088533
    • (1967) Neurology , vol.17 , pp. 727-742
    • Sher, J.H.1    Rimalovski, A.B.2    Athanassiades, T.J.3    Aronson, S.M.4
  • 43
    • 0017755457 scopus 로고
    • Myotubular (centronuclear) (neuro-) myopathy. I. Clinical, genetical and morphological studies
    • 10.1159/000114815. 913442
    • Myotubular (centronuclear) (neuro-) myopathy. I. Clinical, genetical and morphological studies. H Radu I Killyen V Ionescu A Radu, Eur Neurol 1977 15 285 300 10.1159/000114815 913442
    • (1977) Eur Neurol , vol.15 , pp. 285-300
    • Radu, H.1    Killyen, I.2    Ionescu, V.3    Radu, A.4
  • 44
    • 0017143740 scopus 로고
    • Familial centronuclear myopathy associated with "cardiomyopathy. "
    • 131568. 10.1136/hrt.38.5.504
    • Familial centronuclear myopathy associated with "cardiomyopathy. ". W Verhiest JM Brucher P Goddeeris J Lauweryns H De Geest, Br Heart J 1976 38 504 509 131568 10.1136/hrt.38.5.504
    • (1976) Br Heart J , vol.38 , pp. 504-509
    • Verhiest, W.1    Brucher, J.M.2    Goddeeris, P.3    Lauweryns, J.4    De Geest, H.5
  • 45
    • 0017906017 scopus 로고
    • Centronuclear myopathy: Possible central nervous system origin
    • 10.1002/mus.880010109. 752109
    • Centronuclear myopathy: possible central nervous system origin. G Serratrice JF Pellissier MC Faugére JL Gastaut, Muscle Nerve 1978 1 62 69 10.1002/mus.880010109 752109
    • (1978) Muscle Nerve , vol.1 , pp. 62-69
    • Serratrice, G.1    Pellissier, J.F.2    Faugére, M.C.3    Gastaut, J.L.4
  • 47
    • 0020361049 scopus 로고
    • Myopathy with pathological features of both centronuclear myopathy and multicore disease
    • 10.1016/0022-510X(82)90044-2. 7161626
    • Myopathy with pathological features of both centronuclear myopathy and multicore disease. RB Fitzsimons JG McLeod, J Neurol Sci 1982 57 395 405 10.1016/0022-510X(82)90044-2 7161626
    • (1982) J Neurol Sci , vol.57 , pp. 395-405
    • Fitzsimons, R.B.1    McLeod, J.G.2
  • 48
    • 0023390480 scopus 로고
    • On some myopathies with oculomotor involvement
    • 3673494
    • On some myopathies with oculomotor involvement. JJ Martin, Acta Neurol Belg 1987 87 207 228 3673494
    • (1987) Acta Neurol Belg , vol.87 , pp. 207-228
    • Martin, J.J.1
  • 49
    • 0024333707 scopus 로고
    • Problems in genetic counseling in a family with "atypical" centronuclear myopathy
    • 10.1002/ajmg.1320320330. 2729361
    • Problems in genetic counseling in a family with "atypical" centronuclear myopathy. B Müller ML Mostacciuolo GA Danieli T Grimm, Am J Med Genet 1989 32 417 419 10.1002/ajmg.1320320330 2729361
    • (1989) Am J Med Genet , vol.32 , pp. 417-419
    • Müller, B.1    Mostacciuolo, M.L.2    Danieli, G.A.3    Grimm, T.4
  • 51
    • 0023488450 scopus 로고
    • Centronuclear myopathy in black African children-report of 4 cases
    • 3696389
    • Centronuclear myopathy in black African children-report of 4 cases. A Moosa AA Dawood, Neuropediatrics 1987 18 213 217 3696389
    • (1987) Neuropediatrics , vol.18 , pp. 213-217
    • Moosa, A.1    Dawood, A.A.2
  • 54
    • 0020606666 scopus 로고
    • Foot deformity in myotubular myopathy. Pathology of intrinsic foot musculature
    • 6615293
    • Foot deformity in myotubular myopathy. Pathology of intrinsic foot musculature. M Siegel, Arch Neurol 1983 40 589 6615293
    • (1983) Arch Neurol , vol.40 , pp. 589
    • Siegel, M.1
  • 55
    • 0020389758 scopus 로고
    • Centronuclear myopathy. Complete review of the literature apropos of a case
    • 6760877
    • Centronuclear myopathy. Complete review of the literature apropos of a case. M Pages JB Cesari AM Pages, Ann Pathol 1982 2 301 310 6760877
    • (1982) Ann Pathol , vol.2 , pp. 301-310
    • Pages, M.1    Cesari, J.B.2    Pages, A.M.3
  • 56
    • 0023256514 scopus 로고
    • Life-threatening congestive heart failure as the presentation of centronuclear myopathy
    • 10.1016/0887-8994(87)90040-3. 3508053
    • Life-threatening congestive heart failure as the presentation of centronuclear myopathy. SM Gospe Jr DL Armstrong MV Gresik HK Hawkins, Pediatr Neurol 1987 3 117 120 10.1016/0887-8994(87)90040-3 3508053
    • (1987) Pediatr Neurol , vol.3 , pp. 117-120
    • Gospe Jr., S.M.1    Armstrong, D.L.2    Gresik, M.V.3    Hawkins, H.K.4
  • 60
    • 0037979132 scopus 로고    scopus 로고
    • Targeted disruption of the murine Bin1/Amphiphysin II gene does not disable endocytosis but results in embryonic cardiomyopathy with aberrant myofibril formation
    • 12773571. 10.1128/MCB.23.12.4295-4306.2003
    • Targeted disruption of the murine Bin1/Amphiphysin II gene does not disable endocytosis but results in embryonic cardiomyopathy with aberrant myofibril formation. AJ Muller JF Baker JB DuHadaway K Ge G Farmer PS Donover R Meade C Reid R Grzanna AH Roach N Shah AP Soler GC Prendergast, Mol Cell Biol 2003 23 12 4295 4306 12773571 10.1128/MCB.23.12.4295-4306.2003
    • (2003) Mol Cell Biol , vol.23 , Issue.12 , pp. 4295-4306
    • Muller, A.J.1    Baker, J.F.2    Duhadaway, J.B.3    Ge, K.4    Farmer, G.5    Donover, P.S.6    Meade, R.7    Reid, C.8    Grzanna, R.9    Roach, A.H.10    Shah, N.11    Soler, A.P.12    Prendergast, G.C.13
  • 61
    • 0023188671 scopus 로고
    • Familial centronuclear myopathy: A clinical and pathological study
    • 3673497
    • Familial centronuclear myopathy: a clinical and pathological study. E Reske-Nielsen O Hein-Sørensen P Vorre, Acta Neurol Scand 1987 76 115 122 3673497
    • (1987) Acta Neurol Scand , vol.76 , pp. 115-122
    • Reske-Nielsen, E.1    Hein-Sørensen, O.2    Vorre, P.3
  • 63
    • 0030072690 scopus 로고    scopus 로고
    • [Late centronuclear myopathy: Autosomal dominant form]
    • 9213890
    • [Late centronuclear myopathy: autosomal dominant form]. L Cartier JE Hernandez, Revista Medica de Chile 1996 124 209 216 9213890
    • (1996) Revista Medica de Chile , vol.124 , pp. 209-216
    • Cartier, L.1    Hernandez, J.E.2
  • 64
    • 0020394585 scopus 로고
    • Genuine myotubular myopathy
    • 10.1002/mus.880050804. 7155173
    • Genuine myotubular myopathy. L Edström R Wroblewski WGP Mair, Muscle Nerve 1982 5 604 613 10.1002/mus.880050804 7155173
    • (1982) Muscle Nerve , vol.5 , pp. 604-613
    • Edström, L.1    Wroblewski, R.2    Mair, W.G.P.3
  • 65
    • 0026077814 scopus 로고
    • Centronuclear myopathy-an inherited neuromuscular disorder. a report of 3 cases
    • 1887355
    • Centronuclear myopathy-an inherited neuromuscular disorder. A report of 3 cases. H Isaacs ME Badenhorst, S Afr Med J 1991 80 247 250 1887355
    • (1991) S Afr Med J , vol.80 , pp. 247-250
    • Isaacs, H.1    Badenhorst, M.E.2
  • 66
    • 0014785852 scopus 로고
    • Type I muscle fiber atrophy and central nuclei. a rare familial neuromuscular disease
    • 10.1016/0022-510X(70)90027-4. 4910660
    • Type I muscle fiber atrophy and central nuclei. A rare familial neuromuscular disease. G Karpati S Carpenter RF Nelson, J Neurol Sci 1970 10 489 500 10.1016/0022-510X(70)90027-4 4910660
    • (1970) J Neurol Sci , vol.10 , pp. 489-500
    • Karpati, G.1    Carpenter, S.2    Nelson, R.F.3
  • 67
    • 0015318837 scopus 로고
    • Centronuclear myopathy with autosomal dominant inheritance
    • 10.1016/0022-510X(72)90166-9. 5016690
    • Centronuclear myopathy with autosomal dominant inheritance. JG McLeod WDEC Baker AK Lethlean CD Shorey, J Neurol Sci 1972 15 375 387 10.1016/0022-510X(72)90166-9 5016690
    • (1972) J Neurol Sci , vol.15 , pp. 375-387
    • McLeod, J.G.1    Wdec, B.2    Lethlean, A.K.3    Shorey, C.D.4
  • 68
    • 0015352885 scopus 로고
    • Centronuclear myopathy: Disease entity or syndrome? Light- and electron microscopic study of two cases and review of the literature
    • 10.1016/0022-510X(72)90091-3. 5037445
    • Centronuclear myopathy: disease entity or syndrome? Light- and electron microscopic study of two cases and review of the literature. SS Schochet H Zellweger V Ionasescu WF McCormick, J Neurol Sci 1972 16 215 228 10.1016/0022-510X(72)90091-3 5037445
    • (1972) J Neurol Sci , vol.16 , pp. 215-228
    • Schochet, S.S.1    Zellweger, H.2    Ionasescu, V.3    McCormick, W.F.4
  • 69
    • 0016784726 scopus 로고
    • "myotubular myopathy" and "type I fiber atrophy" in a family
    • 10.1016/0022-510X(75)90058-1. 1206433
    • "Myotubular myopathy" and "type I fiber atrophy" in a family. M Kinoshita E Satoyoshi N Matsuo, J Neurol Sci 1975 26 575 582 10.1016/0022-510X(75)90058-1 1206433
    • (1975) J Neurol Sci , vol.26 , pp. 575-582
    • Kinoshita, M.1    Satoyoshi, E.2    Matsuo, N.3
  • 70
    • 0016808171 scopus 로고
    • Centronucleäre Myopathie mit autosomal dominanten Erbgang
    • 10.1007/BF00278346. 1150240
    • Centronucleäre Myopathie mit autosomal dominanten Erbgang. W Mortier E Michaelis J Becker L Gerhard, Humangenetik 1975 27 199 215 10.1007/BF00278346 1150240
    • (1975) Humangenetik , vol.27 , pp. 199-215
    • Mortier, W.1    Michaelis, E.2    Becker, J.3    Gerhard, L.4
  • 73
    • 0022413014 scopus 로고
    • Severe neonatal centronuclear myopathy with autosomal dominant inheritance
    • 2994607
    • Severe neonatal centronuclear myopathy with autosomal dominant inheritance. CF Torres RC Griggs JP Goetz, Arch Neurol 1985 42 1011 1014 2994607
    • (1985) Arch Neurol , vol.42 , pp. 1011-1014
    • Torres, C.F.1    Griggs, R.C.2    Goetz, J.P.3
  • 74
    • 0023149171 scopus 로고
    • Centronuclear myopathy with unusual clinical picture
    • 10.1159/000116328. 3569369
    • Centronuclear myopathy with unusual clinical picture. MG Lovaste D Aldovini G Ferrari, Eur Neurol 1987 26 153 160 10.1159/000116328 3569369
    • (1987) Eur Neurol , vol.26 , pp. 153-160
    • Lovaste, M.G.1    Aldovini, D.2    Ferrari, G.3
  • 75
    • 0030811095 scopus 로고    scopus 로고
    • Autosomal dominant centronuclear myopathy: Report of a new family with clinical features simulating facioscapulohumeral syndrome
    • 10.1002/(SICI)1097-4598(199709)20:9<1194::AID-MUS19>3.0.CO;2-T. 9270681
    • Autosomal dominant centronuclear myopathy: report of a new family with clinical features simulating facioscapulohumeral syndrome. KJ Felice ML Grunnet, Muscle Nerve 1997 20 1194 1196 10.1002/(SICI)1097-4598(199709)20:9<1194:: AID-MUS19>3.0.CO;2-T 9270681
    • (1997) Muscle Nerve , vol.20 , pp. 1194-1196
    • Felice, K.J.1    Grunnet, M.L.2
  • 79
    • 36348953358 scopus 로고    scopus 로고
    • Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
    • 10.1016/j.nmd.2007.06.467. 17825552
    • Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. A Echaniz-Laguna AS Nicot S Carré J Franques C Tranchant N Dondaine V Biancalana JL Mandel J Laporte, Neuromuscul Disord 2007 17 11-12 955 959 10.1016/j.nmd.2007.06.467 17825552
    • (2007) Neuromuscul Disord , vol.17 , Issue.11-12 , pp. 955-959
    • Echaniz-Laguna, A.1    Nicot, A.S.2    Carré, S.3    Franques, J.4    Tranchant, C.5    Dondaine, N.6    Biancalana, V.7    Mandel, J.L.8    Laporte, J.9
  • 84
    • 34547909222 scopus 로고    scopus 로고
    • Multi-minicore Disease
    • 17210076. 10.1186/1750-1172-2-3
    • Multi-minicore Disease. H Jungbluth, Orphanet J Rare Dis 2007 2 3 17210076 10.1186/1750-1172-2-3
    • (2007) Orphanet J Rare Dis , vol.2 , pp. 3
    • Jungbluth, H.1
  • 85
    • 0026720997 scopus 로고
    • Development of malignant hyperthermia during mitral valve replacement
    • 1596140
    • Development of malignant hyperthermia during mitral valve replacement. RD Quinn WE Pae SA McGary GS Wickey, Ann Thorac Surg 1992 53 1114 1116 1596140
    • (1992) Ann Thorac Surg , vol.53 , pp. 1114-1116
    • Quinn, R.D.1    Pae, W.E.2    McGary, S.A.3    Wickey, G.S.4
  • 86
    • 0001528331 scopus 로고
    • X-linked myotubular myopathy (MTM1): Evidence for linkage to Xq28 markers
    • (Abstr)
    • X-linked myotubular myopathy (MTM1): evidence for linkage to Xq28 markers. NST Thomas M Sarfarazi K Roberts, Cytogenet Cell Genet 1987 46 (Abstr) 704.
    • (1987) Cytogenet Cell Genet , vol.46 , pp. 704
    • Thomas, N.S.T.1    Sarfarazi, M.2    Roberts, K.3
  • 89
    • 0025297247 scopus 로고
    • A linkage study of a large pedigree with X-linked centronuclear myopathy
    • 2352255
    • A linkage study of a large pedigree with X-linked centronuclear myopathy. J Starr M Lamont J Iselius J Harvey J Heckmatt, J Med Genet 1990 27 281 283 2352255
    • (1990) J Med Genet , vol.27 , pp. 281-283
    • Starr, J.1    Lamont, M.2    Iselius, J.3    Harvey, J.4    Heckmatt, J.5
  • 92
    • 0028606338 scopus 로고
    • X-linked myotubular myopathy (MTM1) mapped between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker
    • 7891372
    • X-linked myotubular myopathy (MTM1) mapped between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker. N Dahl F Samson NST Thomas LJ Hu W Gong G Herman J Laporte P Kioschis A Poustka JL Mandel, J Med Genet 1994 31 922 924 7891372
    • (1994) J Med Genet , vol.31 , pp. 922-924
    • Dahl, N.1    Samson, F.2    Thomas, N.S.T.3    Hu, L.J.4    Gong, W.5    Herman, G.6    Laporte, J.7    Kioschis, P.8    Poustka, A.9    Mandel, J.L.10
  • 93
    • 0027408369 scopus 로고
    • Prenatal diagnosis of X-linked centronuclear myopathy by linkage analysis
    • 8433896
    • Prenatal diagnosis of X-linked centronuclear myopathy by linkage analysis. S Liechti-Gallati G Wolff K Uwe-Peter S Braga, Pediatr Res 1993 33 201 204 8433896
    • (1993) Pediatr Res , vol.33 , pp. 201-204
    • Liechti-Gallati, S.1    Wolff, G.2    Uwe-Peter, K.3    Braga, S.4
  • 95
    • 9044222886 scopus 로고    scopus 로고
    • A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
    • 10.1038/ng0696-175. 8640223
    • A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. J Laporte LJ Hu C Kretz JL Mandel P Kioschis JF Coy SM Klauck A Poustka N Dahl, Nature Genet 1996 13 175 182 10.1038/ng0696-175 8640223
    • (1996) Nature Genet , vol.13 , pp. 175-182
    • Laporte, J.1    Hu, L.J.2    Kretz, C.3    Mandel, J.L.4    Kioschis, P.5    Coy, J.F.6    Klauck, S.M.7    Poustka, A.8    Dahl, N.9
  • 98
    • 0033033506 scopus 로고    scopus 로고
    • Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients
    • 10.1016/S0960-8966(98)00090-X. 10063835
    • Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. SM Tanner V Schneider NS Thomas A Clarke L Lazarou S Liechti-Gallati, Neuromuscul Disord 1999 9 41 49 10.1016/S0960-8966(98)00090-X 10063835
    • (1999) Neuromuscul Disord , vol.9 , pp. 41-49
    • Tanner, S.M.1    Schneider, V.2    Thomas, N.S.3    Clarke, A.4    Lazarou, L.5    Liechti-Gallati, S.6
  • 99
    • 0036159210 scopus 로고    scopus 로고
    • Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
    • 10.1002/humu.10033. 11793470
    • Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. GE Herman K Kopacz W Zhao PL Mills A Metzenberg S Das, Hum Mutat 2002 19 114 121 10.1002/humu.10033 11793470
    • (2002) Hum Mutat , vol.19 , pp. 114-121
    • Herman, G.E.1    Kopacz, K.2    Zhao, W.3    Mills, P.L.4    Metzenberg, A.5    Das, S.6
  • 100
    • 13844296526 scopus 로고    scopus 로고
    • Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism
    • 10.1016/j.nmd.2004.12.005
    • Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism. TC Tsai H Horinouchi S Noguchi N Minami K Murayama YK Hayashi I Nonaka I Nishino, Neuromuscul Disord 2005 5 3 245 252 10.1016/j.nmd.2004.12.005
    • (2005) Neuromuscul Disord , vol.5 , Issue.3 , pp. 245-252
    • Tsai, T.C.1    Horinouchi, H.2    Noguchi, S.3    Minami, N.4    Murayama, K.5    Hayashi, Y.K.6    Nonaka, I.7    Nishino, I.8
  • 101
    • 0036262374 scopus 로고    scopus 로고
    • Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC)
    • 10.1016/S0960-8966(01)00328-5. 12031625
    • Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). E Flex A De Luca MR D'Apice A Buccino B Dallapiccola G Novelli, Neuromuscul Disord 2002 12 501 505 10.1016/S0960- 8966(01)00328-5 12031625
    • (2002) Neuromuscul Disord , vol.12 , pp. 501-505
    • Flex, E.1    De Luca, A.2    D'Apice, M.R.3    Buccino, A.4    Dallapiccola, B.5    Novelli, G.6
  • 103
    • 0030833392 scopus 로고    scopus 로고
    • Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy
    • 10.1093/hmg/6.9.1499. 9285787
    • Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. BM De Gouyon W Zhao J Laporte JL Mandel A Metzenberg GE Herman, Hum Mol Genet 1997 6 1499 1504 10.1093/hmg/6.9.1499 9285787
    • (1997) Hum Mol Genet , vol.6 , pp. 1499-1504
    • De Gouyon, B.M.1    Zhao, W.2    Laporte, J.3    Mandel, J.L.4    Metzenberg, A.5    Herman, G.E.6
  • 104
    • 0032190896 scopus 로고    scopus 로고
    • MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy
    • 10.1016/S0960-8966(98)00075-3. 9829274
    • MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. I Nishino N Minami O Kobayashi M Ikezawa Y Goto K Arahata I Nonaka, Neuromuscul Disord 1998 8 453 458 10.1016/S0960-8966(98)00075- 3 9829274
    • (1998) Neuromuscul Disord , vol.8 , pp. 453-458
    • Nishino, I.1    Minami, N.2    Kobayashi, O.3    Ikezawa, M.4    Goto, Y.5    Arahata, K.6    Nonaka, I.7
  • 105
    • 0032248603 scopus 로고    scopus 로고
    • A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy
    • 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-#. 10215413
    • A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. A Donnelly E Haan J Manson J Mulley, Hum Mutat 1998 11 4 334 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-# 10215413
    • (1998) Hum Mutat , vol.11 , Issue.4 , pp. 334
    • Donnelly, A.1    Haan, E.2    Manson, J.3    Mulley, J.4
  • 106
    • 0032870431 scopus 로고    scopus 로고
    • Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy
    • 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O. 10502779
    • Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. A Buj-Bello V Biancalana C Moutou J Laporte JL Mandel, Human Mutation 1999 14 320 325 10.1002/(SICI)1098- 1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O 10502779
    • (1999) Human Mutation , vol.14 , pp. 320-325
    • Buj-Bello, A.1    Biancalana, V.2    Moutou, C.3    Laporte, J.4    Mandel, J.L.5
  • 107
    • 0033007377 scopus 로고    scopus 로고
    • A novel mutation (R27 1X) in the myotubularin gene causes a severe myotubular myopathy
    • 10.1159/000022843. 9858861
    • A novel mutation (R27 1X) in the myotubularin gene causes a severe myotubular myopathy. A De Luca I Torrente M Mangino E Bertini B Dallapiccola G Novelli, Human Heredity 1999 49 59 60 10.1159/000022843 9858861
    • (1999) Human Heredity , vol.49 , pp. 59-60
    • De Luca, A.1    Torrente, I.2    Mangino, M.3    Bertini, E.4    Dallapiccola, B.5    Novelli, G.6
  • 108
    • 0031899454 scopus 로고    scopus 로고
    • Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity
    • 9541111
    • Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity. MC Vincent C Guiraud-Chaumeil J Laporte S Manouvrier-Hanu JL Mandel, J Med Genet 1998 35 241 243 9541111
    • (1998) J Med Genet , vol.35 , pp. 241-243
    • Vincent, M.C.1    Guiraud-Chaumeil, C.2    Laporte, J.3    Manouvrier-Hanu, S.4    Mandel, J.L.5
  • 109
    • 18544400869 scopus 로고    scopus 로고
    • Germline mosaicism in X-linked myotubular myopathy
    • 10.1034/j.1399-0004.1999.560111.x. 10466421
    • Germline mosaicism in X-linked myotubular myopathy. BG Hane RC Rogers CE Schwartz, Clin Genet 1999 56 77 81 10.1034/j.1399-0004.1999.560111.x 10466421
    • (1999) Clin Genet , vol.56 , pp. 77-81
    • Hane, B.G.1    Rogers, R.C.2    Schwartz, C.E.3
  • 110
    • 34250380637 scopus 로고    scopus 로고
    • Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy
    • 17537630. 10.1016/j.nmd.2007.03.010
    • Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. CR Pierson PB Agrawal J Blasko AH Beggs, Neuromuscul Disord 2007 17 7 562 568 17537630 10.1016/j.nmd.2007.03.010
    • (2007) Neuromuscul Disord , vol.17 , Issue.7 , pp. 562-568
    • Pierson, C.R.1    Agrawal, P.B.2    Blasko, J.3    Beggs, A.H.4
  • 112
    • 0142027784 scopus 로고    scopus 로고
    • Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module
    • 14530412. 10.1073/pnas.2132732100
    • Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module. P Berger C Schaffitzel I Berger N Ban U Suter, Proc Natl Acad Sci USA 2003 100 21 12177 12182 14530412 10.1073/pnas.2132732100
    • (2003) Proc Natl Acad Sci USA , vol.100 , Issue.21 , pp. 12177-12182
    • Berger, P.1    Schaffitzel, C.2    Berger, I.3    Ban, N.4    Suter, U.5
  • 114
  • 115
    • 0031665007 scopus 로고    scopus 로고
    • Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human
    • 10.1093/hmg/7.11.1703. 9736772
    • Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. J Laporte F Blondeau A Buj-Bello D Tentler C Kretz N Dahl JL Mandel, Hum Mol Genet 1998 7 1703 1712 10.1093/hmg/7.11.1703 9736772
    • (1998) Hum Mol Genet , vol.7 , pp. 1703-1712
    • Laporte, J.1    Blondeau, F.2    Buj-Bello, A.3    Tentler, D.4    Kretz, C.5    Dahl, N.6    Mandel, J.L.7
  • 116
    • 0031945475 scopus 로고    scopus 로고
    • Association of SET domain and myotubularin-related proteins modulates growth control
    • 10.1038/ng0498-331. 9537414
    • Association of SET domain and myotubularin-related proteins modulates growth control. X Cui VI De R Slany A Miyamoto R Firestein ML Cleary, Nat Genet 1998 18 331 337 10.1038/ng0498-331 9537414
    • (1998) Nat Genet , vol.18 , pp. 331-337
    • Cui, X.1    De, V.I.2    Slany, R.3    Miyamoto, A.4    Firestein, R.5    Cleary, M.L.6
  • 117
    • 0034703432 scopus 로고    scopus 로고
    • Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway
    • 11001925
    • Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. F Blondeau J Laporte S Bodin Superti-Furga B Payrastre JL Mandel, Hum Mol Genet 2000 9 15 2223 2229 11001925
    • (2000) Hum Mol Genet , vol.9 , Issue.15 , pp. 2223-2229
    • Blondeau, F.1    Laporte, J.2    Bodin, S.3    Superti-Furga4    Payrastre, B.5    Mandel, J.L.6
  • 118
    • 0034244437 scopus 로고    scopus 로고
    • Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate
    • 10900271. 10.1073/pnas.160255697
    • Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. GS Taylor T Maehama JE Dixon, Proc Natl Acad Sci USA 2000 97 8910 8915 10900271 10.1073/pnas.160255697
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 8910-8915
    • Taylor, G.S.1    Maehama, T.2    Dixon, J.E.3
  • 119
    • 0347480266 scopus 로고    scopus 로고
    • Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: Involvement of PtdIns(3)P in insulin-stimulated glucose transport
    • 10.1210/me.2003-0261. 14500759
    • Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport. C Chaussade L Pirola S Bonnafous F Blondeau S Brenz-Verca H Tronchère F Portis S Rusconi B Payrastre J Laporte E Van Obberghen, Mol Endocrinol 2003 17 2448 2460 10.1210/me.2003-0261 14500759
    • (2003) Mol Endocrinol , vol.17 , pp. 2448-2460
    • Chaussade, C.1    Pirola, L.2    Bonnafous, S.3    Blondeau, F.4    Brenz-Verca, S.5    Tronchère, H.6    Portis, F.7    Rusconi, S.8    Payrastre, B.9    Laporte, J.10    Van Obberghen, E.11
  • 120
    • 1842690628 scopus 로고    scopus 로고
    • Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction
    • 10.1074/jbc.M312294200. 14722070
    • Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. K Tsujita T Itoh T Ijuin A Yamamoto A Shisheva J Laporte T Takenawa, J Biol Chem 2004 279 13817 13824 10.1074/jbc.M312294200 14722070
    • (2004) J Biol Chem , vol.279 , pp. 13817-13824
    • Tsujita, K.1    Itoh, T.2    Ijuin, T.3    Yamamoto, A.4    Shisheva, A.5    Laporte, J.6    Takenawa, T.7
  • 122
    • 0035313320 scopus 로고    scopus 로고
    • The myotubularin family: From genetic disease to phosphoinositide metabolism
    • 10.1016/S0168-9525(01)02245-4. 11275328
    • The myotubularin family: from genetic disease to phosphoinositide metabolism. J Laporte F Blondeau A Buj-Bello JL Mandel, Trends Genet 2001 17 221 228 10.1016/S0168-9525(01)02245-4 11275328
    • (2001) Trends Genet , vol.17 , pp. 221-228
    • Laporte, J.1    Blondeau, F.2    Buj-Bello, A.3    Mandel, J.L.4
  • 124
    • 0141891208 scopus 로고    scopus 로고
    • Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases
    • 10.1093/hmg/ddg273. 12925573
    • Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. J Laporte F Bedez A Bolino JL Mandel, Hum Mol Genet 2003 12 Spec No 2 R285 292 10.1093/hmg/ddg273 12925573
    • (2003) Hum Mol Genet , vol.12 , Issue.SPEC. NO. 2 , pp. 285-292
    • Laporte, J.1    Bedez, F.2    Bolino, A.3    Mandel, J.L.4
  • 125
    • 27744600351 scopus 로고    scopus 로고
    • The myotubularin family of lipid phosphatases
    • 10.1111/j.1600-0854.2005.00338.x. 16262718
    • The myotubularin family of lipid phosphatases. MJ Clague O Lorenzo, Traffic 2005 6 12 1063 1069 10.1111/j.1600-0854.2005.00338.x 16262718
    • (2005) Traffic , vol.6 , Issue.12 , pp. 1063-1069
    • Clague, M.J.1    Lorenzo, O.2
  • 126
    • 33746729798 scopus 로고    scopus 로고
    • Myotubularin phosphatases: Policing 3-phosphoinositides
    • 10.1016/j.tcb.2006.06.001. 16828287
    • Myotubularin phosphatases: policing 3-phosphoinositides. FL Robinson JE Dixon, Trends Cell Biol 2006 16 8 403 412 10.1016/j.tcb.2006.06.001 16828287
    • (2006) Trends Cell Biol , vol.16 , Issue.8 , pp. 403-412
    • Robinson, F.L.1    Dixon, J.E.2
  • 127
    • 0037069371 scopus 로고    scopus 로고
    • The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
    • 10.1073/pnas.212498399
    • The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. A Buj-Bello V Laugel N Messadeq H Zahreddine J Laporte JF Pellisier JL Mandel, Natl Acad Sci USA 2002 99 15060 15065 10.1073/pnas.212498399
    • (2002) Natl Acad Sci USA , vol.99 , pp. 15060-15065
    • Buj-Bello, A.1    Laugel, V.2    Messadeq, N.3    Zahreddine, H.4    Laporte, J.5    Pellisier, J.F.6    Mandel, J.L.7
  • 128
    • 24644440937 scopus 로고    scopus 로고
    • Gene expression analyses in X-linked myotubular myopathy
    • 10.1212/01.wnl.0000174625.67484.4d. 16157907
    • Gene expression analyses in X-linked myotubular myopathy. S Noguchi M Fujita K Murayama R Kurokawa Nishino, Neurology 2005 65 5 732 737 10.1212/01.wnl.0000174625.67484.4d 16157907
    • (2005) Neurology , vol.65 , Issue.5 , pp. 732-737
    • Noguchi, S.1    Fujita, M.2    Murayama, K.3    Kurokawa, R.4    Nishino5
  • 129
    • 34547597494 scopus 로고    scopus 로고
    • Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
    • 10.1212/01.wnl.0000265820.51075.61. 17636067
    • Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. GM Fabrizi M Ferrarini T Cavallaro I Cabrini R Cerini L Bertolasi N Rizzuto, Neurology 2007 69 3 291 295 10.1212/01.wnl.0000265820.51075.61 17636067
    • (2007) Neurology , vol.69 , Issue.3 , pp. 291-295
    • Fabrizi, G.M.1    Ferrarini, M.2    Cavallaro, T.3    Cabrini, I.4    Cerini, R.5    Bertolasi, L.6    Rizzuto, N.7
  • 130
    • 43049159556 scopus 로고    scopus 로고
    • A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings
    • 10.1016/j.nmd.2008.01.005. 18394888
    • A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings. M Bitoun T Stojkovic B Prudhon CA Maurage P Latour P Vermersch P Guicheney, Neuromuscul Disord 2008 18 4 334 338 10.1016/j.nmd.2008.01.005 18394888
    • (2008) Neuromuscul Disord , vol.18 , Issue.4 , pp. 334-338
    • Bitoun, M.1    Stojkovic, T.2    Prudhon, B.3    Maurage, C.A.4    Latour, P.5    Vermersch, P.6    Guicheney, P.7
  • 131
    • 33846223406 scopus 로고    scopus 로고
    • Dynamin is required for F-actin assembly and pedestal formation by enteropathogenic Escherichia coli (EPEC)
    • 10.1111/j.1462-5822.2006.00801.x. 16965516
    • Dynamin is required for F-actin assembly and pedestal formation by enteropathogenic Escherichia coli (EPEC). KE Unsworth P Mazurkiewicz F Senf M Zettl M McNiven M Way DW Holden, Cell Microbiol 2007 9 2 438 449 10.1111/j.1462-5822.2006.00801.x 16965516
    • (2007) Cell Microbiol , vol.9 , Issue.2 , pp. 438-449
    • Unsworth, K.E.1    Mazurkiewicz, P.2    Senf, F.3    Zettl, M.4    McNiven, M.5    Way, M.6    Holden, D.W.7
  • 132
    • 2342574188 scopus 로고    scopus 로고
    • Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion
    • 10.1038/ncb1112. 15048127
    • Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion. HM Thompson H Cao J Chen U Euteneuer MA McNiven, Nat Cell Biol 2004 6 4 335 342 10.1038/ncb1112 15048127
    • (2004) Nat Cell Biol , vol.6 , Issue.4 , pp. 335-342
    • Thompson, H.M.1    Cao, H.2    Chen, J.3    Euteneuer, U.4    McNiven, M.A.5
  • 133
    • 0032559342 scopus 로고    scopus 로고
    • Role of dynamin in the formation of transport vesicles from the trans-Golgi network
    • 10.1126/science.279.5350.573. 9438853
    • Role of dynamin in the formation of transport vesicles from the trans-Golgi network. SM Jones KE Howell JR Henley H Cao MA McNiven, Science 1998 279 5350 573 577 10.1126/science.279.5350.573 9438853
    • (1998) Science , vol.279 , Issue.5350 , pp. 573-577
    • Jones, S.M.1    Howell, K.E.2    Henley, J.R.3    Cao, H.4    McNiven, M.A.5
  • 134
    • 0030905586 scopus 로고    scopus 로고
    • Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of ranvier in brain and around T tubules in skeletal muscle
    • 9182667. 10.1083/jcb.137.6.1355
    • Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of ranvier in brain and around T tubules in skeletal muscle. MH Butler C David GC Ochoa Z Freyberg L Daniell D Grabs O Cremona P De Camilli, J Cell Biol 1997 137 6 1355 1367 9182667 10.1083/jcb.137.6.1355
    • (1997) J Cell Biol , vol.137 , Issue.6 , pp. 1355-1367
    • Butler, M.H.1    David, C.2    Ochoa, G.C.3    Freyberg, Z.4    Daniell, L.5    Grabs, D.6    Cremona, O.7    De Camilli, P.8
  • 135
    • 0030908644 scopus 로고    scopus 로고
    • Identification and characterization of a nerve terminal-enriched amphiphysin isoform
    • 10.1074/jbc.272.26.16700. 9195986
    • Identification and characterization of a nerve terminal-enriched amphiphysin isoform. AR Ramjaun KD Micheva I Bouchelet PS McPherson, J Biol Chem 1997 272 26 16700 16706 10.1074/jbc.272.26.16700 9195986
    • (1997) J Biol Chem , vol.272 , Issue.26 , pp. 16700-16706
    • Ramjaun, A.R.1    Micheva, K.D.2    Bouchelet, I.3    McPherson, P.S.4
  • 136
    • 1442317538 scopus 로고    scopus 로고
    • BAR domains as sensors of membrane curvature: The amphiphysin BAR structure
    • 10.1126/science.1092586. 14645856
    • BAR domains as sensors of membrane curvature: the amphiphysin BAR structure. BJ Peter HM Kent IG Mills Y Vallis PJ Butler PR Evans HT McMahon, Science 2004 303 5657 495 499 10.1126/science.1092586 14645856
    • (2004) Science , vol.303 , Issue.5657 , pp. 495-499
    • Peter, B.J.1    Kent, H.M.2    Mills, I.G.3    Vallis, Y.4    Butler, P.J.5    Evans, P.R.6    McMahon, H.T.7
  • 137
    • 0035890136 scopus 로고    scopus 로고
    • Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila
    • 11711432. 10.1101/gad.207801
    • Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila. A Razzaq IM Robinson HT McMahon JN Skepper Y Su AC Zelhof AP Jackson NJ Gay CJ O'Kane, Genes Dev 2001 15 22 2967 2979 11711432 10.1101/gad.207801
    • (2001) Genes Dev , vol.15 , Issue.22 , pp. 2967-2979
    • Razzaq, A.1    Robinson, I.M.2    McMahon, H.T.3    Skepper, J.N.4    Su, Y.5    Zelhof, A.C.6    Jackson, A.P.7    Gay, N.J.8    O'Kane, C.J.9
  • 138
    • 0032530315 scopus 로고    scopus 로고
    • Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation
    • 9736607. 10.1093/emboj/17.18.5273
    • Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation. DJ Owen P Wigge Y Vallis JD Moore PR Evans HT McMahon, EMBO J 1998 17 18 5273 5285 9736607 10.1093/emboj/17.18.5273
    • (1998) EMBO J , vol.17 , Issue.18 , pp. 5273-5285
    • Owen, D.J.1    Wigge, P.2    Vallis, Y.3    Moore, J.D.4    Evans, P.R.5    McMahon, H.T.6
  • 141
    • 0018841563 scopus 로고
    • Centronuclear myopathy: Extraocular and limb muscle findings in an adult
    • 10.1002/mus.880030210. 6445039
    • Centronuclear myopathy: extraocular and limb muscle findings in an adult. BJ Bergen MP Carry WB Wilson MT Barden SP Ringel, Muscle Nerve 1980 3 165 171 10.1002/mus.880030210 6445039
    • (1980) Muscle Nerve , vol.3 , pp. 165-171
    • Bergen, B.J.1    Carry, M.P.2    Wilson, W.B.3    Barden, M.T.4    Ringel, S.P.5
  • 142
    • 0024602570 scopus 로고
    • Muscle histochemistry in myotubular (centronuclear) myopathy
    • 2466417
    • Muscle histochemistry in myotubular (centronuclear) myopathy. T Sasaki K Shikura K Sugai I Nonaka K Kumagai, Brain Dev 1989 11 26 32 2466417
    • (1989) Brain Dev , vol.11 , pp. 26-32
    • Sasaki, T.1    Shikura, K.2    Sugai, K.3    Nonaka, I.4    Kumagai, K.5
  • 143
    • 0030889762 scopus 로고    scopus 로고
    • Sequential muscle biopsy changes in a case of congenital myopathy
    • 10.1002/(SICI)1097-4598(199705)20:5<561::AID-MUS4>3.0.CO;2-7. 9140362
    • Sequential muscle biopsy changes in a case of congenital myopathy. MJ Danon CS Giometti JR Manaligod C Swisher, Muscle Nerve 1997 20 561 569 10.1002/(SICI)1097-4598(199705)20:5<561::AID-MUS4>3.0.CO;2-7 9140362
    • (1997) Muscle Nerve , vol.20 , pp. 561-569
    • Danon, M.J.1    Giometti, C.S.2    Manaligod, J.R.3    Swisher, C.4
  • 144
    • 0021691696 scopus 로고
    • Centronuclear myopathy with special consideration of the adult form
    • 10.1159/000115725. 6542524
    • Centronuclear myopathy with special consideration of the adult form. HH Goebel HM Meinck M Reinecke K Schimrigk U Mielke, Eur Neurol 1984 23 425 434 10.1159/000115725 6542524
    • (1984) Eur Neurol , vol.23 , pp. 425-434
    • Goebel, H.H.1    Meinck, H.M.2    Reinecke, M.3    Schimrigk, K.4    Mielke, U.5
  • 146
    • 0028200113 scopus 로고
    • Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy
    • 10.1016/0022-510X(94)90015-9. 7931426
    • Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy. A Fidzianska HH Goebel, J Neurol Sci 1994 124 83 88 10.1016/0022-510X(94)90015-9 7931426
    • (1994) J Neurol Sci , vol.124 , pp. 83-88
    • Fidzianska, A.1    Goebel, H.H.2
  • 147
    • 0028933287 scopus 로고
    • Immunophenotyping of congenital myopathies: Disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins
    • 10.1016/0022-510X(94)00282-S. 7608737
    • Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins. F van der Ven PH Jap HJ ter Laak I Nonaka PG Barth RC Sengers AM Stadhouders FC Ramaekers, J Neurol Sci 1995 129 199 213 10.1016/0022-510X(94)00282-S 7608737
    • (1995) J Neurol Sci , vol.129 , pp. 199-213
    • Der Van, V.F.1    Jap, P.H.2    Ter Laak, H.J.3    Nonaka, I.4    Barth, P.G.5    Sengers, R.C.6    Stadhouders, A.M.7    Ramaekers, F.C.8
  • 148
    • 0025279786 scopus 로고
    • Myotubular myopathy: Arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle
    • 2357647
    • Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. HB Sarnat, Can J Neurol Sci 1990 17 109 123 2357647
    • (1990) Can J Neurol Sci , vol.17 , pp. 109-123
    • Sarnat, H.B.1
  • 149
    • 0026744205 scopus 로고
    • Vimentin and desmin in maturing skeletal muscle and developmental myopathies
    • 1641160
    • Vimentin and desmin in maturing skeletal muscle and developmental myopathies. HB Sarnat, Neurology 1992 42 1616 1624 1641160
    • (1992) Neurology , vol.42 , pp. 1616-1624
    • Sarnat, H.B.1
  • 150
    • 0032133989 scopus 로고    scopus 로고
    • The role of immunocytochemistry in congenital myopathies
    • 10.1016/S0960-8966(98)00053-4. 9713857
    • The role of immunocytochemistry in congenital myopathies. CA Sewry, Neuromuscular Disorders 1998 8 394 400 10.1016/S0960-8966(98)00053-4 9713857
    • (1998) Neuromuscular Disorders , vol.8 , pp. 394-400
    • Sewry, C.A.1
  • 152
    • 33847234288 scopus 로고    scopus 로고
    • Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: A clinical and genetic study
    • 10.1016/j.nmd.2006.10.008. 17251023
    • Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. I Pénisson-Besnier V Biancalana P Reynier M Cossée F Dubas, Neuromuscul Disord 2007 17 2 180 185 10.1016/j.nmd.2006.10.008 17251023
    • (2007) Neuromuscul Disord , vol.17 , Issue.2 , pp. 180-185
    • Pénisson-Besnier, I.1    Biancalana, V.2    Reynier, P.3    Cossée, M.4    Dubas, F.5
  • 153
    • 0034950288 scopus 로고    scopus 로고
    • Diagnosis of X-linked myotubular myopathy by detection of myotubularin
    • 10.1002/ana.1033. 11456308
    • Diagnosis of X-linked myotubular myopathy by detection of myotubularin. J Laporte W Kress J Mandel, Ann Neurol 2001 50 42 46 10.1002/ana.1033 11456308
    • (2001) Ann Neurol , vol.50 , pp. 42-46
    • Laporte, J.1    Kress, W.2    Mandel, J.3
  • 155
    • 0016748797 scopus 로고
    • Myotubular myopathy associated with cataract and electrical myotonia
    • 1185197
    • Myotubular myopathy associated with cataract and electrical myotonia. CH Hawkes MJ Absolon, J Neurol Neurosurg Psychiatry 1975 38 761 764 1185197
    • (1975) J Neurol Neurosurg Psychiatry , vol.38 , pp. 761-764
    • Hawkes, C.H.1    Absolon, M.J.2
  • 156
    • 0019464647 scopus 로고
    • Cytopathology of an unusual case of centronuclear myopathy. L
    • 10.1016/0022-510X(81)90146-5. 6455504
    • Cytopathology of an unusual case of centronuclear myopathy. L. N Hulsmann F Gullotta H Okur, J Neurol Sci 1981 50 311 333 10.1016/0022-510X(81)90146-5 6455504
    • (1981) J Neurol Sci , vol.50 , pp. 311-333
    • Hulsmann, N.1    Gullotta, F.2    Okur, H.3
  • 158
    • 0027522327 scopus 로고
    • Respiratory involvement in primary muscle disorders: Assessment and management
    • 8483991
    • Respiratory involvement in primary muscle disorders: assessment and management. RS Howard CM Wiles NP Hirsch GT Spencer, Q J Med 1993 86 175 189 8483991
    • (1993) Q J Med , vol.86 , pp. 175-189
    • Howard, R.S.1    Wiles, C.M.2    Hirsch, N.P.3    Spencer, G.T.4
  • 159
    • 0030248407 scopus 로고    scopus 로고
    • A follow-up study of congenital non-progressive myopathies
    • 10.1016/0387-7604(96)00042-3. 8891237
    • A follow-up study of congenital non-progressive myopathies. C Akiyama I Nonaka, Brain Dev 1996 18 404 408 10.1016/0387-7604(96)00042-3 8891237
    • (1996) Brain Dev , vol.18 , pp. 404-408
    • Akiyama, C.1    Nonaka, I.2
  • 160
    • 0019202583 scopus 로고
    • Endurance exercise training in a patient with central core disease
    • 7191522
    • Endurance exercise training in a patient with central core disease. UJM Hagberg JE Carroll MH Brooke, Neurology 1980 30 1242 1244 7191522
    • (1980) Neurology , vol.30 , pp. 1242-1244
    • Hagberg, U.J.M.1    Carroll, J.E.2    Brooke, M.H.3
  • 161
    • 0014967968 scopus 로고
    • Myopathy and malignant hyperpyrexia
    • 10.1016/S0140-6736(70)91215-8. 4192097
    • Myopathy and malignant hyperpyrexia. MA Denborough P Ebeling JO King P Zapf, Lancet 1970 1 7657 1138 1140 10.1016/S0140-6736(70)91215-8 4192097
    • (1970) Lancet , vol.1 , Issue.7657 , pp. 1138-1140
    • Denborough, M.A.1    Ebeling, P.2    King, J.O.3    Zapf, P.4
  • 162
    • 0015912935 scopus 로고
    • Central-core disease and malignant hyperpyrexia
    • 4265427
    • Central-core disease and malignant hyperpyrexia. MA Denborough X Dennett RM Anderson, Br Med J 1973 1 272 273 4265427
    • (1973) Br Med J , vol.1 , pp. 272-273
    • Denborough, M.A.1    Dennett, X.2    Anderson, R.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.