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Volumn 21, Issue 4, 2003, Pages 779-794

Congenital myopathies/dystrophies

Author keywords

[No Author keywords available]

Indexed keywords

CENTRAL CORE DISEASE; CENTRONUCLEAR MYOPATHY; CHILD; CLINICAL FEATURE; DISEASE CLASSIFICATION; ELECTROMYOGRAPHY; HUMAN; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MYOPATHY; NEMALINE MYOPATHY; ONSET AGE; PRIORITY JOURNAL; REVIEW; SKELETAL MUSCLE;

EID: 0142043301     PISSN: 07338619     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0733-8619(03)00013-6     Document Type: Review
Times cited : (9)

References (64)
  • 1
    • 0028115692 scopus 로고
    • Congenital myopathies
    • Bodensteiner JB. Congenital myopathies. Muscle Nerve 1994;17:131-44.
    • (1994) Muscle Nerve , vol.17 , pp. 131-144
    • Bodensteiner, J.B.1
  • 2
  • 3
    • 0028069087 scopus 로고
    • The dropped head sign: An unusual presentation of congenital myopathy
    • Riggs JE, Bodensteiner JB, Schochet SS. The dropped head sign: an unusual presentation of congenital myopathy. J Child Neurol 1994;9:330-1.
    • (1994) J Child Neurol , vol.9 , pp. 330-331
    • Riggs, J.E.1    Bodensteiner, J.B.2    Schochet, S.S.3
  • 4
    • 0001478427 scopus 로고
    • A new congenital non-progressive myopathy
    • Shy GM, Magee KR. A new congenital non-progressive myopathy. Brain 1956;76:610-21.
    • (1956) Brain , vol.76 , pp. 610-621
    • Shy, G.M.1    Magee, K.R.2
  • 5
    • 0025751590 scopus 로고
    • Evidence for linkage of the central core disease locus to proximal long arm of human chromosome 19
    • Kausch K, Lehmann-Horn F, Janka M, Wieringa B, Grimm T, Muller CR. Evidence for linkage of the central core disease locus to proximal long arm of human chromosome 19. Genomics 1991;10:765-9.
    • (1991) Genomics , vol.10 , pp. 765-769
    • Kausch, K.1    Lehmann-Horn, F.2    Janka, M.3    Wieringa, B.4    Grimm, T.5    Muller, C.R.6
  • 6
    • 0035888611 scopus 로고    scopus 로고
    • Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor
    • Monnier N, Romero NB, Lerale J, Landrieu P, Fardeau M, Lunardi J. Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum Mol Genet 2001;10:2581-92.
    • (2001) Hum Mol Genet , vol.10 , pp. 2581-2592
    • Monnier, N.1    Romero, N.B.2    Lerale, J.3    Landrieu, P.4    Fardeau, M.5    Lunardi, J.6
  • 7
    • 0000230326 scopus 로고
    • Light and electron microscopic studies of "myogranules" in a child with hypotonia and muscle weakness
    • Conen PE, Murphy EG, Donohue WL. Light and electron microscopic studies of "myogranules" in a child with hypotonia and muscle weakness. Canad Med Assn J 1963;89:983-6.
    • (1963) Canad Med Assn J , vol.89 , pp. 983-986
    • Conen, P.E.1    Murphy, E.G.2    Donohue, W.L.3
  • 8
    • 0001313262 scopus 로고
    • Nemaline myopathy. A new congenital myopathy
    • Shy GM, Engel WK, Somers JE, Wanko T. Nemaline myopathy. A new congenital myopathy. Brain 1963;86:793-810.
    • (1963) Brain , vol.86 , pp. 793-810
    • Shy, G.M.1    Engel, W.K.2    Somers, J.E.3    Wanko, T.4
  • 10
    • 0027482809 scopus 로고
    • Intranuclear rods in severe congenital nemaline myopathy
    • Rifai Z, Kazee AM, Kamp C, Griggs RC. Intranuclear rods in severe congenital nemaline myopathy. Neurology 1993;43:2372-7.
    • (1993) Neurology , vol.43 , pp. 2372-2377
    • Rifai, Z.1    Kazee, A.M.2    Kamp, C.3    Griggs, R.C.4
  • 11
    • 0023872222 scopus 로고
    • Pathology of congenital nemaline myopathy. A follow-up study
    • Wallgren-Pettersson C, Rapola J, Donner M. Pathology of congenital nemaline myopathy. A follow-up study. J Neurol Sci 1988;83:243-57.
    • (1988) J Neurol Sci , vol.83 , pp. 243-257
    • Wallgren-Pettersson, C.1    Rapola, J.2    Donner, M.3
  • 16
  • 18
    • 0013865106 scopus 로고
    • Myotubular myopathy: Persistence of fetal muscle in an adolescent boy
    • Spiro AJ, Shy GM, Gonatas NK. Myotubular myopathy: persistence of fetal muscle in an adolescent boy. Arch Neurol 1966;14:1-14.
    • (1966) Arch Neurol , vol.14 , pp. 1-14
    • Spiro, A.J.1    Shy, G.M.2    Gonatas, N.K.3
  • 21
    • 0026099236 scopus 로고
    • Centronuclear myopathy heterogeneity: Distinction of clinical types by myosin isoform patterns
    • Sawchak JA, Sher JH, Norman MG, Kula RW, Shafiq SA. Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns. Neurology 1991;41:135-40.
    • (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
  • 22
    • 0022649742 scopus 로고
    • Craniopharyngioma in a boy with centronuclear (myotubular) myopathy: Clinical and postmortem findings
    • Strom EH, Tangsrud S-E. Craniopharyngioma in a boy with centronuclear (myotubular) myopathy: clinical and postmortem findings. Clin Neuropath 1986;5:84-7.
    • (1986) Clin Neuropath , vol.5 , pp. 84-87
    • Strom, E.H.1    Tangsrud, S.-E.2
  • 23
    • 0025300478 scopus 로고
    • X-linked neonatal centronuclear/myotubular myopathy: Evidence for linkage to Xq28 DNA marker loci
    • Thomas NS, Williams H, Cole G, Roberts K, Clarke A, Liechti-Gallati S, et al. X-linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. J Med Genet 1990;27:284-7.
    • (1990) J Med Genet , vol.27 , pp. 284-287
    • Thomas, N.S.1    Williams, H.2    Cole, G.3    Roberts, K.4    Clarke, A.5    Liechti-Gallati, S.6
  • 26
    • 0029875653 scopus 로고    scopus 로고
    • Prenatal diagnosis of X-linked myotubular myopathy: Strategies using new and tightly linked DNA markers
    • Hu LJ, Laporte J, Kress W, Dahl N. Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers. Prenat Diagn 1996;16:231-7.
    • (1996) Prenat Diagn , vol.16 , pp. 231-237
    • Hu, L.J.1    Laporte, J.2    Kress, W.3    Dahl, N.4
  • 28
    • 0022411641 scopus 로고
    • Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children
    • Heckmatt JZ, Sewry CA, Hodes D, Dubowitz V. Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children. Brain 1985;108:941-64.
    • (1985) Brain , vol.108 , pp. 941-964
    • Heckmatt, J.Z.1    Sewry, C.A.2    Hodes, D.3    Dubowitz, V.4
  • 30
    • 0015136736 scopus 로고
    • Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers
    • Engel AG, Gomez MR, Groover RV. Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers. Mayo Clin Proc 1971;46:666-81.
    • (1971) Mayo Clin Proc , vol.46 , pp. 666-681
    • Engel, A.G.1    Gomez, M.R.2    Groover, R.V.3
  • 31
    • 0027238945 scopus 로고
    • The respiratory muscles in multicore myopathy
    • Rimmer KP, Whitelaw WA. The respiratory muscles in multicore myopathy. Am Rev Respir Dis 1993;148:227-31.
    • (1993) Am Rev Respir Dis , vol.148 , pp. 227-231
    • Rimmer, K.P.1    Whitelaw, W.A.2
  • 32
    • 0028059631 scopus 로고
    • Multicore myopathy, microcephaly, agangionosis, and short stature
    • Kim JJ, Armstrong DD, Fishman MA. Multicore myopathy, microcephaly, agangionosis, and short stature. J Child Neurol 1994;9:275-7.
    • (1994) J Child Neurol , vol.9 , pp. 275-277
    • Kim, J.J.1    Armstrong, D.D.2    Fishman, M.A.3
  • 33
    • 0014530789 scopus 로고
    • The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies
    • Brooke MH, Engel WK. The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies. Neurology 1969;19:591-605.
    • (1969) Neurology , vol.19 , pp. 591-605
    • Brooke, M.H.1    Engel, W.K.2
  • 34
    • 0030052658 scopus 로고    scopus 로고
    • Severe central nervous system involvement in a patient with congenital fiber-type disproportion myopathy
    • Nakagawa E, Ozawa M, Yamanouchi H, Sugai K, Goto Y, Nonako I. Severe central nervous system involvement in a patient with congenital fiber-type disproportion myopathy [letter]. J Child Neurol 1996;11:71-3.
    • (1996) J Child Neurol , vol.11 , pp. 71-73
    • Nakagawa, E.1    Ozawa, M.2    Yamanouchi, H.3    Sugai, K.4    Goto, Y.5    Nonako, I.6
  • 35
    • 0028916235 scopus 로고
    • Severe insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy
    • Vestergaard H, Klein HH, Hansen T, Muller J, Skovby F, Bjorbaek C, et al. Severe insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy. J Clin Invest 1995;95:1925-32.
    • (1995) J Clin Invest , vol.95 , pp. 1925-1932
    • Vestergaard, H.1    Klein, H.H.2    Hansen, T.3    Muller, J.4    Skovby, F.5    Bjorbaek, C.6
  • 36
  • 37
    • 0028107163 scopus 로고
    • Congenital myopathy with fiber type disproportion: A family with a chromosomal translocation t(10-;17) may indicate candidate gene regions
    • Gerdes AM, Petersen MB, Schroder HD, Wulff K, Brondum-Nielsen K. Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10-;17) may indicate candidate gene regions. Clin Genet 1994;45:11-6.
    • (1994) Clin Genet , vol.45 , pp. 11-16
    • Gerdes, A.M.1    Petersen, M.B.2    Schroder, H.D.3    Wulff, K.4    Brondum-Nielsen, K.5
  • 38
  • 40
    • 0021829295 scopus 로고
    • New observations in reducing body myopathy
    • Carpenter S, Karpati G, Holland P. New observations in reducing body myopathy. Neurology 1985;35:818-27.
    • (1985) Neurology , vol.35 , pp. 818-827
    • Carpenter, S.1    Karpati, G.2    Holland, P.3
  • 41
    • 0015356059 scopus 로고
    • Fingerprint body myopathy. A newly recognized congenital muscle disease
    • Engel AG, Angelini C, Gomez MR. Fingerprint body myopathy. A newly recognized congenital muscle disease. Mayo Clin Proc 1972;42:377-88.
    • (1972) Mayo Clin Proc , vol.42 , pp. 377-388
    • Engel, A.G.1    Angelini, C.2    Gomez, M.R.3
  • 42
    • 0028857926 scopus 로고
    • Desmin-related neuromuscular disorders
    • Goebel HH. Desmin-related neuromuscular disorders. Muscle Nerve 1995;18:1306-20.
    • (1995) Muscle Nerve , vol.18 , pp. 1306-1320
    • Goebel, H.H.1
  • 44
    • 0029875349 scopus 로고    scopus 로고
    • Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
    • Nakano S, Engel AG, Waclawik AJ, Emslie-Smith AM, Busis NA. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropath Exp Neurol 1996;55:549-62.
    • (1996) J Neuropath Exp Neurol , vol.55 , pp. 549-562
    • Nakano, S.1    Engel, A.G.2    Waclawik, A.J.3    Emslie-Smith, A.M.4    Busis, N.A.5
  • 45
    • 0029925575 scopus 로고    scopus 로고
    • Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins
    • De Bleecker JL, Engel AG, Ertl BB. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropath Exp Neurol 1996;55:563-77.
    • (1996) J Neuropath Exp Neurol , vol.55 , pp. 563-577
    • De Bleecker, J.L.1    Engel, A.G.2    Ertl, B.B.3
  • 46
    • 0018074575 scopus 로고
    • Familial neuromuscular disease with type I fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features
    • Dobkin BH, Verity MA. Familial neuromuscular disease with type I fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features. Neurology 1978;28:1135-40.
    • (1978) Neurology , vol.28 , pp. 1135-1140
    • Dobkin, B.H.1    Verity, M.A.2
  • 47
    • 0020678862 scopus 로고
    • A dominantly inherited myopathy with excessive tubular aggregates
    • Rohkamm R, Boxler K, Ricker K, Jerusalem F. A dominantly inherited myopathy with excessive tubular aggregates. Neurology 1983;33:331-6.
    • (1983) Neurology , vol.33 , pp. 331-336
    • Rohkamm, R.1    Boxler, K.2    Ricker, K.3    Jerusalem, F.4
  • 48
  • 49
    • 0019429282 scopus 로고
    • Exercise-induced pain, stiffness, and tubular aggregates in skeletal muscle
    • Brumback RA, Staton RD, Susag M. Exercise-induced pain, stiffness, and tubular aggregates in skeletal muscle. J Neurol Neurosurg Psychiat 1981;44:250-4.
    • (1981) J Neurol Neurosurg Psychiat , vol.44 , pp. 250-254
    • Brumback, R.A.1    Staton, R.D.2    Susag, M.3
  • 50
    • 0022385918 scopus 로고
    • Tubular aggregates, their association with neuromuscular disease, including the syndrome of myalgias/cramps
    • Rosenberg NL, Neville HE, Ringel SP. Tubular aggregates, their association with neuromuscular disease, including the syndrome of myalgias/cramps. Arch Neurol 1985;42:973-6.
    • (1985) Arch Neurol , vol.42 , pp. 973-976
    • Rosenberg, N.L.1    Neville, H.E.2    Ringel, S.P.3
  • 51
    • 0020693550 scopus 로고
    • Nonprogressive congenital neuromuscular disease with uniform type I fiber
    • Oh SJ, Danon MJ. Nonprogressive congenital neuromuscular disease with uniform type I fiber. Arch Neurol 1983;40:147-50.
    • (1983) Arch Neurol , vol.40 , pp. 147-150
    • Oh, S.J.1    Danon, M.J.2
  • 52
    • 0029983850 scopus 로고    scopus 로고
    • Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining
    • Connolly AM, Pestronk A, Planer GJ, Yuc J, Mehta S, Choksi R. Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining. Neurology 1996;46:810-4.
    • (1996) Neurology , vol.46 , pp. 810-814
    • Connolly, A.M.1    Pestronk, A.2    Planer, G.J.3    Yuc, J.4    Mehta, S.5    Choksi, R.6
  • 53
    • 0029877803 scopus 로고    scopus 로고
    • Congenital muscular dystrophy: Clinical and pathological study of 50 patients with classical (Occidental) merosin-positive form
    • Kobayashi O, Hagashi Y, Arahata K, Ozawa E, Nonaka I. Congenital muscular dystrophy: clinical and pathological study of 50 patients with classical (Occidental) merosin-positive form. Neurology 1996;46:815-8.
    • (1996) Neurology , vol.46 , pp. 815-818
    • Kobayashi, O.1    Hagashi, Y.2    Arahata, K.3    Ozawa, E.4    Nonaka, I.5
  • 54
    • 10544230641 scopus 로고    scopus 로고
    • Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathy
    • Pegoraro E, Mancias P, Swerdlow SH, Raikow RB, Garcia C, Marks H, et al. Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathy. Ann Neurol 1996;40:782-91.
    • (1996) Ann Neurol , vol.40 , pp. 782-791
    • Pegoraro, E.1    Mancias, P.2    Swerdlow, S.H.3    Raikow, R.B.4    Garcia, C.5    Marks, H.6
  • 56
    • 0037076508 scopus 로고    scopus 로고
    • Collagen VI involvement in Ullrich syndrome: A clinical, genetic, and immunohistochemical study
    • Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, et al. Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. Neurology 2002;58:1354-9.
    • (2002) Neurology , vol.58 , pp. 1354-1359
    • Mercuri, E.1    Yuva, Y.2    Brown, S.C.3    Brockington, M.4    Kinali, M.5    Jungbluth, H.6
  • 57
    • 0032861273 scopus 로고    scopus 로고
    • Laminin-2/integrin interactions enhance myelin membrane formation by oligodendrocytes
    • Buttery PC, ffrench-Constant C. Laminin-2/integrin interactions enhance myelin membrane formation by oligodendrocytes. Mol Cell Neurosci 1999;14:199-212.
    • (1999) Mol Cell Neurosci , vol.14 , pp. 199-212
    • Buttery, P.C.1    Ffrench-Constant, C.2
  • 58
    • 19244362767 scopus 로고    scopus 로고
    • Linkage-dysequilibrium narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb
    • Toda T, Miyake M, Kobayashi K, Mizuno K, Saito K, Osawa M, et al. Linkage-dysequilibrium narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. Am J Hum Genet 1996;59:1313-20.
    • (1996) Am J Hum Genet , vol.59 , pp. 1313-1320
    • Toda, T.1    Miyake, M.2    Kobayashi, K.3    Mizuno, K.4    Saito, K.5    Osawa, M.6
  • 59
    • 0032723417 scopus 로고    scopus 로고
    • Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)
    • Kondo-Iida E, Kobayashi K, Watanabe M, Saski J, Kumagai T, Koide H, et al. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet 1999;8:2303-9.
    • (1999) Hum Mol Genet , vol.8 , pp. 2303-2309
    • Kondo-Iida, E.1    Kobayashi, K.2    Watanabe, M.3    Saski, J.4    Kumagai, T.5    Koide, H.6
  • 60
    • 0036938777 scopus 로고    scopus 로고
    • Fukutin expression in glial cells and neurons: Implication in the brain lesions of Fukuyama congenital muscular dystrophy
    • Yamamoto T, Kato Y, Karita M, Takeiri H, Muramatsu F, Kobayashi M, et al. Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy. Acta Neuropathol 2002;104:217-24.
    • (2002) Acta Neuropathol , vol.104 , pp. 217-224
    • Yamamoto, T.1    Kato, Y.2    Karita, M.3    Takeiri, H.4    Muramatsu, F.5    Kobayashi, M.6
  • 62
    • 0028931768 scopus 로고
    • Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome
    • Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y. Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. Ann Neurol 1995;37:99-101.
    • (1995) Ann Neurol , vol.37 , pp. 99-101
    • Toda, T.1    Yoshioka, M.2    Nakahori, Y.3    Kanazawa, I.4    Nakamura, Y.5    Nakagome, Y.6
  • 63
    • 0034662805 scopus 로고    scopus 로고
    • Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy
    • Chadani Y, Kondoh T, Kamimura N, Matsumoto T, Matsuzaka T, Kobayashi O, et al. Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy. J Neurol Sci 2000;177:150-3.
    • (2000) J Neurol Sci , vol.177 , pp. 150-153
    • Chadani, Y.1    Kondoh, T.2    Kamimura, N.3    Matsumoto, T.4    Matsuzaka, T.5    Kobayashi, O.6
  • 64
    • 0035942359 scopus 로고    scopus 로고
    • Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
    • Cormand B, Pihko H, Baynes M, Valanne L, Santavuori P, Talim B, et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 2001;56:1059-69.
    • (2001) Neurology , vol.56 , pp. 1059-1069
    • Cormand, B.1    Pihko, H.2    Baynes, M.3    Valanne, L.4    Santavuori, P.5    Talim, B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.