메뉴 건너뛰기




Volumn 5, Issue 1, 2003, Pages 12-28

The limb girdle muscular dystrophies: Our ever-expanding knowledge

Author keywords

Calpain; Caveolin; Dysferlin; Fukutin related protein; Lamin A C; Limb girdle; Muscular dystrophy myotilin; Sarcoglycan; Telethonin; Titin0; TRIM 32

Indexed keywords

ADENOVIRUS VECTOR; CALPAIN 3; CAVEOLIN 3; CONNECTIN; CREATINE KINASE; DYSFERLIN; GENE PRODUCT; LAMIN A; LAMIN B; PHENYTOIN; SARCOGLYCAN; TOCAINIDE;

EID: 1642566760     PISSN: 15220443     EISSN: None     Source Type: Journal    
DOI: 10.1097/00131402-200309000-00003     Document Type: Review
Times cited : (7)

References (124)
  • 1
    • 0000042975 scopus 로고
    • On the classification, natural history and treatment of the myopathies
    • Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain. 1954;77:169-231.
    • (1954) Brain , vol.77 , pp. 169-231
    • Walton, J.N.1    Nattrass, F.J.2
  • 2
    • 0033814140 scopus 로고    scopus 로고
    • Molecular basis of muscular dystrophies
    • Cohn RD, Campbell KP. Molecular basis of muscular dystrophies. Muscle Nerve. 2000;23:1456-1471.
    • (2000) Muscle Nerve , vol.23 , pp. 1456-1471
    • Cohn, R.D.1    Campbell, K.P.2
  • 3
    • 0028835527 scopus 로고
    • Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limb-girdle dystrophies
    • Bushby KMD. Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limb-girdle dystrophies. Neuromuscul Disord. 1995;5:71-74.
    • (1995) Neuromuscul. Disord. , vol.5 , pp. 71-74
    • Bushby, K.M.D.1
  • 4
    • 0029334512 scopus 로고
    • The limb-girdle muscular dystrophies-proposal for a new nomenclature
    • Bushby KMD, Beckmann JS. The limb-girdle muscular dystrophies-proposal for a new nomenclature. Neuromuscul Disord. 1995;5:337-343.
    • (1995) Neuromuscul. Disord. , vol.5 , pp. 337-343
    • Bushby, K.M.D.1    Beckmann, J.S.2
  • 5
    • 0023856168 scopus 로고
    • Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy
    • Gilchrist JM, Pericak-Vance M, Silverman L, et al. Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology. 1988;38:5-9.
    • (1988) Neurology , vol.38 , pp. 5-9
    • Gilchrist, J.M.1    Pericak-Vance, M.2    Silverman, L.3
  • 6
    • 0034284682 scopus 로고    scopus 로고
    • Myotilin is mutated in limb girdle muscular dystrophy 1A
    • Hauser MA, Horrigan SK, Salmikangas P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000;9:2141-2147.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2141-2147
    • Hauser, M.A.1    Horrigan, S.K.2    Salmikangas, P.3
  • 7
    • 0032471403 scopus 로고    scopus 로고
    • Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: Clinical description and gene localization to 5q31
    • Feit H, Silbergleit A, Schneider LB, et al. Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: Clinical description and gene localization to 5q31. Am J Hum Genet. 1998;63: 1732-1742.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 1732-1742
    • Feit, H.1    Silbergleit, A.2    Schneider, L.B.3
  • 8
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000; 9:109-112.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 9
    • 0036178210 scopus 로고    scopus 로고
    • Homozygous defects in LMNA, encoding lamin A/C nuclear envelop proteins, cause amosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
    • De Sandre-Giovannoli A, Chaouch M, Kozlov S, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear envelop proteins, cause amosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet. 2002;70:726-736.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 726-736
    • De Sandre-Giovannoli, A.1    Chaouch, M.2    Kozlov, S.3
  • 10
    • 12244293441 scopus 로고    scopus 로고
    • Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
    • Novelli G, Muchir A, Sangiuolo F, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet. 2002;71: 426-431.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 426-431
    • Novelli, G.1    Muchir, A.2    Sangiuolo, F.3
  • 11
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
    • Muchir A, Bonne G, van der Kooi A, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet. 2000;9:1453-1459.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    van der Kooi, A.3
  • 12
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999;21:285-288.
    • (1999) Nat. Genet. , vol.21 , pp. 285-288
    • Bonne, G.1    Di Barletta, M.R.2    Varnous, S.3
  • 13
    • 0033518282 scopus 로고    scopus 로고
    • Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
    • Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999;341:1715-1724.
    • (1999) N. Engl. J. Med. , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 14
    • 0034213873 scopus 로고    scopus 로고
    • Emery-Dreifuss muscular dystrophy-a 40 year retrospective
    • Emery AEH. Emery-Dreifuss muscular dystrophy-a 40 year retrospective. Neuromuscul Disord. 2000; 10:228-232.
    • (2000) Neuromuscul. Disord. , vol.10 , pp. 228-232
    • Emery, A.E.H.1
  • 15
    • 0034620567 scopus 로고    scopus 로고
    • Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
    • Brodsky GL, Muntoni F, Miocic S, et al. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation. 2000;101:473-476.
    • (2000) Circulation , vol.101 , pp. 473-476
    • Brodsky, G.L.1    Muntoni, F.2    Miocic, S.3
  • 16
    • 0037183491 scopus 로고    scopus 로고
    • Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
    • van der Kooi AJ, Bonne G, Eymard B, et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology. 2002;59:620-623.
    • (2002) Neurology , vol.59 , pp. 620-623
    • van der Kooi, A.J.1    Bonne, G.2    Eymard, B.3
  • 17
    • 0033865686 scopus 로고    scopus 로고
    • Clinical and molecular spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
    • Bonne G, Mercuri E, Muchir A, et al. Clinical and molecular spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol. 2000;48:170-180.
    • (2000) Ann. Neurol. , vol.48 , pp. 170-180
    • Bonne, G.1    Mercuri, E.2    Muchir, A.3
  • 18
    • 0034864629 scopus 로고    scopus 로고
    • Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
    • Sewry CA, Brown SC, Mercuri E, et al. Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol. 2001;27:281-290.
    • (2001) Neuropathol. Appl. Neurobiol. , vol.27 , pp. 281-290
    • Sewry, C.A.1    Brown, S.C.2    Mercuri, E.3
  • 19
    • 0031920515 scopus 로고    scopus 로고
    • Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
    • Minetti C, Sotgia F, Bruno C, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet. 1998;18: 365-368.
    • (1998) Nat. Genet. , vol.18 , pp. 365-368
    • Minetti, C.1    Sotgia, F.2    Bruno, C.3
  • 20
    • 0034944010 scopus 로고    scopus 로고
    • Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
    • Betz RC, Schoser BGH, Kasper D, et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet. 2001;28:218-219.
    • (2001) Nat. Genet. , vol.28 , pp. 218-219
    • Betz, R.C.1    Schoser, B.G.H.2    Kasper, D.3
  • 21
    • 17044449846 scopus 로고    scopus 로고
    • Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
    • Carbone I, Bruno C, Sotgia F, et al. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology. 2000;54:1373-1376.
    • (2000) Neurology , vol.54 , pp. 1373-1376
    • Carbone, I.1    Bruno, C.2    Sotgia, F.3
  • 22
    • 0037154197 scopus 로고    scopus 로고
    • Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy
    • Tateyama M, Aoki M, Nishino I, et al. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology. 2002;58:323-325.
    • (2002) Neurology , vol.58 , pp. 323-325
    • Tateyama, M.1    Aoki, M.2    Nishino, I.3
  • 23
    • 0037310782 scopus 로고    scopus 로고
    • Consequences of a novel caveolin-3 mutation in a large German family
    • Fischer D, Schroers A, Blümcke I, et al. Consequences of a novel caveolin-3 mutation in a large German family. Ann Neurol. 2003;53:233-241.
    • (2003) Ann. Neurol. , vol.53 , pp. 233-241
    • Fischer, D.1    Schroers, A.2    Blümcke, I.3
  • 24
    • 0035943423 scopus 로고    scopus 로고
    • Emerging themes in lipid rafts and caveolae
    • Galbiati F, Razani B, Lisanti M. Emerging themes in lipid rafts and caveolae. Cell. 2001;106:403-411.
    • (2001) Cell , vol.106 , pp. 403-411
    • Galbiati, F.1    Razani, B.2    Lisanti, M.3
  • 25
    • 0035976611 scopus 로고    scopus 로고
    • Caveolae: A once elusive structure gets some respect
    • Marx J. Caveolae: A once elusive structure gets some respect. Science. 2001;294:1862-1865.
    • (2001) Science , vol.294 , pp. 1862-1865
    • Marx, J.1
  • 26
    • 0034792435 scopus 로고    scopus 로고
    • Caveolae and caveolin-3 in muscular dystrophy
    • Galbiati F, Razani B, Lisanti M. Caveolae and caveolin-3 in muscular dystrophy. Trends Mol Med. 2001;7:435-441.
    • (2001) Trends Mol. Med. , vol.7 , pp. 435-441
    • Galbiati, F.1    Razani, B.2    Lisanti, M.3
  • 27
    • 0032496393 scopus 로고    scopus 로고
    • Caveolin-3 is not an essential component of the dystrophin glycoprotein complex
    • Crosbie RH, Yamada H, Venzke DP, et al. Caveolin-3 is not an essential component of the dystrophin glycoprotein complex. FEBS Lett. 1998;427: 279-282.
    • (1998) FEBS Lett. , vol.427 , pp. 279-282
    • Crosbie, R.H.1    Yamada, H.2    Venzke, D.P.3
  • 28
    • 0034703176 scopus 로고    scopus 로고
    • Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
    • Herrmann R, Straub V, Blank M, et al. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet. 2000;9:2335-2340.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2335-2340
    • Herrmann, R.1    Straub, V.2    Blank, M.3
  • 29
    • 0035880516 scopus 로고    scopus 로고
    • The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
    • Matsuda C, Hayashi Y, Ogawa M, et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet. 2001;17:1761-1766.
    • (2001) Hum. Mol. Genet. , vol.17 , pp. 1761-1766
    • Matsuda, C.1    Hayashi, Y.2    Ogawa, M.3
  • 30
    • 0035877753 scopus 로고    scopus 로고
    • Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and T-tubule abnormalities
    • Galbiati F, Engelman JA, Volante D, et al. Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and T-tubule abnormalities. J Biol Chem. 2001;276:21425-21433.
    • (2001) J. Biol. Chem. , vol.276 , pp. 21425-21433
    • Galbiati, F.1    Engelman, J.A.2    Volante, D.3
  • 31
    • 0036142950 scopus 로고    scopus 로고
    • Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency
    • Minetti C, Bado M, Broda P, et al. Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency. Am J Pathol. 2002;160:265-270.
    • (2002) Am. J. Pathol. , vol.160 , pp. 265-270
    • Minetti, C.1    Bado, M.2    Broda, P.3
  • 33
    • 0033594454 scopus 로고    scopus 로고
    • Phenotypic variability in rippling muscle disease
    • Vorgerd M, Bolz H, Patzold T, et al. Phenotypic variability in rippling muscle disease. Neurology. 1999;52:1453-1459.
    • (1999) Neurology , vol.52 , pp. 1453-1459
    • Vorgerd, M.1    Bolz, H.2    Patzold, T.3
  • 34
    • 0036299366 scopus 로고    scopus 로고
    • Familial isolated hyperCKemia associated with a new mutation in the caveolin-3 (CAV-3) gene
    • Merlini L, Carbone I, Capanni C, et al. Familial isolated hyperCKemia associated with a new mutation in the caveolin-3 (CAV-3) gene. J Neurol Neurosurg Psychiatry. 2002;73:65-67.
    • (2002) J. Neurol. Neurosurg. Psychiatry , vol.73 , pp. 65-67
    • Merlini, L.1    Carbone, I.2    Capanni, C.3
  • 35
    • 0035117623 scopus 로고    scopus 로고
    • Rippling muscle disease: Evidence for phenotypic and genetic heterogeneity
    • So YT, Zu L, Barraza C, et al. Rippling muscle disease: evidence for phenotypic and genetic heterogeneity. Muscle Nerve. 2001;24:340-344.
    • (2001) Muscle Nerve , vol.24 , pp. 340-344
    • So, Y.T.1    Zu, L.2    Barraza, C.3
  • 36
    • 0036259847 scopus 로고    scopus 로고
    • Rippling muscle disease: A review
    • Torbergsen T. Rippling muscle disease: A review. Muscle Nerve. 2002;11:S103-S107.
    • (2002) Muscle Nerve , vol.11
    • Torbergsen, T.1
  • 37
    • 0034531315 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy (LGMD1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation
    • Galbiati F, Volonté D, Minetti C, et al. Limb-girdle muscular dystrophy (LGMD1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. J Biol Chem. 2000;275:37702-37711.
    • (2000) J. Biol. Chem. , vol.275 , pp. 37702-37711
    • Galbiati, F.1    Volonté, D.2    Minetti, C.3
  • 38
    • 0037206019 scopus 로고    scopus 로고
    • Dilated cardiomyopathy: A genetically heterogeneous disease
    • Shaw T, Elliott P, McKenna WJ. Dilated cardiomyopathy: A genetically heterogeneous disease. Lancet. 2002;360:654-655.
    • (2002) Lancet , vol.360 , pp. 654-655
    • Shaw, T.1    Elliott, P.2    McKenna, W.J.3
  • 39
    • 0030882270 scopus 로고    scopus 로고
    • Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23
    • Messina DN, Speer MC, Pericak-Vance MA, et al. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet. 1997;61:909-917.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 909-917
    • Messina, D.N.1    Speer, M.C.2    Pericak-Vance, M.A.3
  • 40
    • 0014478756 scopus 로고
    • Genetic studies of a family with two unusual autosomal dominant conditions: Muscular dystrophy and Pelger-Huet anomaly
    • Schneiderman LJ, Sampson WI, Schoene WC, et al. Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly. Am J Med. 1969;46:380-393.
    • (1969) Am. J. Med. , vol.46 , pp. 380-393
    • Schneiderman, L.J.1    Sampson, W.I.2    Schoene, W.C.3
  • 41
    • 0028788563 scopus 로고
    • Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy
    • Speer MC, Gilchrist JM, Chutkow JG, et al. Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. Am J Med Genet. 1995;57:1371-1376.
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 1371-1376
    • Speer, M.C.1    Gilchrist, J.M.2    Chutkow, J.G.3
  • 42
    • 0033073978 scopus 로고    scopus 로고
    • Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7
    • Speer MC, Vance JM, Grubber JM, et al. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am J Hum Genet. 1999;64:556-562.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 556-562
    • Speer, M.C.1    Vance, J.M.2    Grubber, J.M.3
  • 43
    • 0013926252 scopus 로고
    • Paget's disease and muscular dystrophy: Report of an unusual association in one family
    • McBride TI. Paget's disease and muscular dystrophy: Report of an unusual association in one family. Scott Med J. 1966;11:238-243.
    • (1966) Scott. Med. J. , vol.11 , pp. 238-243
    • McBride, T.I.1
  • 44
    • 0000214535 scopus 로고
    • Paget's disease (osteitis deformans). Analysis of 116 cases
    • Gutman AB, Kasabach H. Paget's disease (osteitis deformans). Analysis of 116 cases. Am J Med Sci. 1936;191:361-380.
    • (1936) Am. J. Med. Sci. , vol.191 , pp. 361-380
    • Gutman, A.B.1    Kasabach, H.2
  • 45
    • 0034532113 scopus 로고    scopus 로고
    • Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone
    • Kimonis VE, Kovach MJ, Waggoner B, et al. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med. 2000;2:232-241.
    • (2000) Genet. Med. , vol.2 , pp. 232-241
    • Kimonis, V.E.1    Kovach, M.J.2    Waggoner, B.3
  • 46
    • 18244381306 scopus 로고    scopus 로고
    • Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: Hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia
    • Kovach MJ, Waggoner B, Leal SM, et al. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: Hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab. 2001;74:458-475.
    • (2001) Mol. Genet. Metab. , vol.74 , pp. 458-475
    • Kovach, M.J.1    Waggoner, B.2    Leal, S.M.3
  • 47
    • 0037087323 scopus 로고    scopus 로고
    • Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy
    • Waggoner B, Kovach MJ, Winkelman M, et al. Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. Am J Med Genet. 2002;108:187-191.
    • (2002) Am. J. Med. Genet. , vol.108 , pp. 187-191
    • Waggoner, B.1    Kovach, M.J.2    Winkelman, M.3
  • 48
    • 0025368639 scopus 로고
    • Myopathy with respiratory failure and typical myofibrillar lesions
    • Edström L, Thornell L-E, Albo J, et al. Myopathy with respiratory failure and typical myofibrillar lesions. J Neurol Sci. 1990;96:211-228.
    • (1990) J. Neurol. Sci. , vol.96 , pp. 211-228
    • Edström, L.1    Thornell, L.-E.2    Albo, J.3
  • 49
    • 0033365290 scopus 로고    scopus 로고
    • Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q
    • Nicolao P, Xiang F, Gunnarsson L-G, et al. Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. Am J Hum Genet. 1999;64:788-792.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 788-792
    • Nicolao, P.1    Xiang, F.2    Gunnarsson, L.-G.3
  • 50
    • 0033040052 scopus 로고    scopus 로고
    • A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: A likely chromosomal locus on 2q21
    • Xiang F, Nicolao P, Chapon F, et al. A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: A likely chromosomal locus on 2q21. Neuromuscul Disord. 1999;9:308-312.
    • (1999) Neuromuscul. Disord. , vol.9 , pp. 308-312
    • Xiang, F.1    Nicolao, P.2    Chapon, F.3
  • 51
    • 0035957073 scopus 로고    scopus 로고
    • Autosomal dominant limb-girdle muscular dystrophy: A large kindred with evidence for anticipation
    • Gamez J, Navarro C, Andreu AL, et al. Autosomal dominant limb-girdle muscular dystrophy: A large kindred with evidence for anticipation. Neurology. 2001;56:450-454.
    • (2001) Neurology , vol.56 , pp. 450-454
    • Gamez, J.1    Navarro, C.2    Andreu, A.L.3
  • 52
    • 0032765019 scopus 로고    scopus 로고
    • Autosomal dominant limb-girdle muscular dystrophy with ankle joint contractures
    • Tanaka K, Yamada T, Kikuchi H, et al. Autosomal dominant limb-girdle muscular dystrophy with ankle joint contractures. Acta Neurol Scand. 1999; 100:199-201.
    • (1999) Acta Neurol. Scand. , vol.100 , pp. 199-201
    • Tanaka, K.1    Yamada, T.2    Kikuchi, H.3
  • 53
    • 0032882445 scopus 로고    scopus 로고
    • The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms
    • Bushby KMD. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet. 1999;8:1875-1882.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1875-1882
    • Bushby, K.M.D.1
  • 54
    • 0033596817 scopus 로고    scopus 로고
    • Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population
    • Chou F-L, Angelini C, Daentl D, et al. Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population. Neurology. 1999; 52:1015-1020.
    • (1999) Neurology , vol.52 , pp. 1015-1020
    • Chou, F.-L.1    Angelini, C.2    Daentl, D.3
  • 55
    • 0034893933 scopus 로고    scopus 로고
    • Calpain 3 gene mutations: Genetic and clinico-pathologic findings in limb-girdle muscular dystrophy
    • Chae J, Minami N, Jin Y, et al. Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy. Neuromuscul Disord. 2001;11:547-555.
    • (2001) Neuromuscul. Disord. , vol.11 , pp. 547-555
    • Chae, J.1    Minami, N.2    Jin, Y.3
  • 56
    • 0033793971 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy: One gene with different phenotypes, one phenotype with different genes
    • Zatz M, Vainzof M, Passos-Bueno MR. Limb-girdle muscular dystrophy: One gene with different phenotypes, one phenotype with different genes. Curr Opin Neurol. 2000;13:511-517.
    • (2000) Curr. Opin. Neurol. , vol.13 , pp. 511-517
    • Zatz, M.1    Vainzof, M.2    Passos-Bueno, M.R.3
  • 57
    • 0011298170 scopus 로고
    • Limb-girdle muscular dystrophies frequent in Réunion Island
    • [Abstract]. October 22-27, 1989. Neurol India
    • Fardeau M, Hillaire D, Mignard C, et al. Limb-girdle muscular dystrophies frequent in Réunion Island [Abstract]. Proceedings of the XIVth World Congress of Neurology, October 22-27, 1989. Neurol India. 1989;37:SUpplement.
    • (1989) Proceedings of the XIVth World Congress of Neurology , vol.37 , Issue.SUPPL.
    • Fardeau, M.1    Hillaire, D.2    Mignard, C.3
  • 58
    • 0026027805 scopus 로고
    • A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage
    • Beckmann JS, Richard I, Hillaire D, et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci III. 1991;312: 114-118.
    • (1991) C. R. Acad. Sci. III. , vol.312 , pp. 114-118
    • Beckmann, J.S.1    Richard, I.2    Hillaire, D.3
  • 59
    • 0028905205 scopus 로고
    • A novel mechanism leading to muscular dystrophy: Mutations in calpain 3 cause limb-girdle muscular dystrophy type 2A
    • Richard I, Bronx O, Allamand V, et al. A novel mechanism leading to muscular dystrophy: Mutations in calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell. 1995;81:27-40.
    • (1995) Cell , vol.81 , pp. 27-40
    • Richard, I.1    Bronx, O.2    Allamand, V.3
  • 60
    • 0029963979 scopus 로고    scopus 로고
    • Juvenile limb-girdle muscular dystrophy: Clinical, histopathological and genetic data from a small community living in the Reunion Island
    • Fardeau M, Hillaire D, Mignard C, et al. Juvenile limb-girdle muscular dystrophy: Clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain. 1996;119:295-308.
    • (1996) Brain , vol.119 , pp. 295-308
    • Fardeau, M.1    Hillaire, D.2    Mignard, C.3
  • 61
    • 0035075146 scopus 로고    scopus 로고
    • The phenotype of calpainopathy: Diagnosis based on a multidisciplinary approach
    • Pollitt C, Anderson LVB, Pogue R, et al. The phenotype of calpainopathy: Diagnosis based on a multidisciplinary approach. Neuromuscul Disord. 2001;11:287-296.
    • (2001) Neuromuscul. Disord. , vol.11 , pp. 287-296
    • Pollitt, C.1    Anderson, L.V.B.2    Pogue, R.3
  • 62
    • 0035066445 scopus 로고    scopus 로고
    • Limb girdle muscular dystrophy type 2A presenting with cardiac arrest
    • Dirik E, Aydin A, Kurul S, et al. Limb girdle muscular dystrophy type 2A presenting with cardiac arrest. Pediatr Neurol. 2001;24:235-237.
    • (2001) Pediatr. Neurol. , vol.24 , pp. 235-237
    • Dirik, E.1    Aydin, A.2    Kurul, S.3
  • 63
    • 0035852977 scopus 로고    scopus 로고
    • Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A
    • Talim B, Ognibene A, Mattioli E, et al. Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A. Neurology. 2001;56:692-693.
    • (2001) Neurology , vol.56 , pp. 692-693
    • Talim, B.1    Ognibene, A.2    Mattioli, E.3
  • 64
    • 0033361883 scopus 로고    scopus 로고
    • Calpainopathy-a survey of mutations and polymorphisms
    • Richard I, Roudaut C, Saenz A, et al. Calpainopathy-a survey of mutations and polymorphisms. Am J Hum Genet. 1999;64:1524-1540.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1524-1540
    • Richard, I.1    Roudaut, C.2    Saenz, A.3
  • 65
    • 0037211475 scopus 로고    scopus 로고
    • The 105th ENMC sponsored workshop: Pathogenesis in the non-sarcoglycan timb-girdle muscular dystrophies, Naarden; April 12-14, 2002
    • Bushby KMD, Beckmann JS. The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan timb-girdle muscular dystrophies, Naarden; April 12-14, 2002. Neuromuscul Disord. 2003;13:80-90.
    • (2003) Neuromuscul. Disord. , vol.13 , pp. 80-90
    • Bushby, K.M.D.1    Beckmann, J.S.2
  • 66
    • 0001634301 scopus 로고    scopus 로고
    • Myopathy phenotype of transgenic mice expressing active sitemutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A
    • Tagawa K, Taya C, Hayashi Y, et al. Myopathy phenotype of transgenic mice expressing active sitemutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A. Hum Mol Genet. 2000;9:1393-1402.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1393-1402
    • Tagawa, K.1    Taya, C.2    Hayashi, Y.3
  • 67
    • 0032941594 scopus 로고    scopus 로고
    • Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα /NF-κB pathway in limb-girdle muscular dystrophy type 2A
    • Baghdiguian S, Martin M, Richard I, et al. Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα /NF-κB pathway in limb-girdle muscular dystrophy type 2A. Nat Med. 1999;5:503-511.
    • (1999) Nat. Med. , vol.5 , pp. 503-511
    • Baghdiguian, S.1    Martin, M.2    Richard, I.3
  • 68
    • 0026005315 scopus 로고
    • Muscular dystrophy with separate clinical phenotypes in a large family
    • Udd B, Kääriänen H, Somer H. Muscular dystrophy with separate clinical phenotypes in a large family. Muscle Nerve. 1991;14:1050-1058.
    • (1991) Muscle Nerve , vol.14 , pp. 1050-1058
    • Udd, B.1    Kääriänen, H.2    Somer, H.3
  • 69
    • 0027102414 scopus 로고
    • A large inbred Palestinian family with two forms of muscular dystrophy
    • Mahjneh I, Vannelli G, Bushby K, et al. A large inbred Palestinian family with two forms of muscular dystrophy. Neuromuscul Disord. 1992;2: 277-283.
    • (1992) Neuromuscul. Disord. , vol.2 , pp. 277-283
    • Mahjneh, I.1    Vannelli, G.2    Bushby, K.3
  • 70
    • 12644258539 scopus 로고    scopus 로고
    • Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy
    • Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, et al. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain. 1996;119:1895-1909.
    • (1996) Brain , vol.119 , pp. 1895-1909
    • Illarioshkin, S.N.1    Ivanova-Smolenskaya, I.A.2    Tanaka, H.3
  • 71
    • 0029845713 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
    • Weiler T, Greenberg CR, Nylen E, et al. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet. 1996;59:872-878.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 872-878
    • Weiler, T.1    Greenberg, C.R.2    Nylen, E.3
  • 72
    • 17344365600 scopus 로고    scopus 로고
    • Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
    • Liu J, Aoki M, Illa I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 1998; 20:31-36.
    • (1998) Nat. Genet. , vol.20 , pp. 31-36
    • Liu, J.1    Aoki, M.2    Illa, I.3
  • 73
    • 0034719093 scopus 로고    scopus 로고
    • Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy
    • Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, et al. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology. 2000;55:1931-1933.
    • (2000) Neurology , vol.55 , pp. 1931-1933
    • Illarioshkin, S.N.1    Ivanova-Smolenskaya, I.A.2    Greenberg, C.R.3
  • 74
    • 17344363640 scopus 로고    scopus 로고
    • A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
    • Bashir R, Britton S, Strachan T, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet. 1998;20:37-42.
    • (1998) Nat. Genet. , vol.20 , pp. 37-42
    • Bashir, R.1    Britton, S.2    Strachan, T.3
  • 75
    • 0030972880 scopus 로고    scopus 로고
    • A nematode gene required for sperm vesicle fusion
    • Achanzar WE, Ward S. A nematode gene required for sperm vesicle fusion. J Cell Sci. 1997;110:1073-1081.
    • (1997) J. Cell Sci. , vol.110 , pp. 1073-1081
    • Achanzar, W.E.1    Ward, S.2
  • 76
    • 0035109410 scopus 로고    scopus 로고
    • Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype
    • Illa I, Serrano-Munuera C, Gallardo E, et al. Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol. 2001;49:130-134.
    • (2001) Ann. Neurol. , vol.49 , pp. 130-134
    • Illa, I.1    Serrano-Munuera, C.2    Gallardo, E.3
  • 77
    • 0034122879 scopus 로고    scopus 로고
    • Muscular dystrophy due to dysferlin deficiency in Libyan Jews
    • Argov Z, Sadeh M, Mazor K, et al. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Brain. 2000;123:1229-1237.
    • (2000) Brain , vol.123 , pp. 1229-1237
    • Argov, Z.1    Sadeh, M.2    Mazor, K.3
  • 78
    • 0035144864 scopus 로고    scopus 로고
    • Dysferlinopathy (LGMD2B): A 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations
    • Mahjneh I, Marconi G, Bushby K, et al. Dysferlinopathy (LGMD2B): A 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. Neuromuscul Disord. 2001; 11:20-26.
    • (2001) Neuromuscul. Disord. , vol.11 , pp. 20-26
    • Mahjneh, I.1    Marconi, G.2    Bushby, K.3
  • 79
    • 0034783436 scopus 로고    scopus 로고
    • Clinical and genetic aspects of distal myopathies
    • Saperstein DS, Amato AA, Barohn RJ. Clinical and genetic aspects of distal myopathies. Muscle Nerve. 2001;24:1440-1450.
    • (2001) Muscle Nerve , vol.24 , pp. 1440-1450
    • Saperstein, D.S.1    Amato, A.A.2    Barohn, R.J.3
  • 80
    • 0030730609 scopus 로고    scopus 로고
    • Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients
    • Linssen WH, Notermans NC, Vreyling JP, et al. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. Brain. 1997;120:1989-1996.
    • (1997) Brain , vol.120 , pp. 1989-1996
    • Linssen, W.H.1    Notermans, N.C.2    Vreyling, J.P.3
  • 81
    • 0002992848 scopus 로고    scopus 로고
    • Miyoshi myopathy with vacuoles
    • Shaibani A, Harati Y, Amato A, et al. Miyoshi myopathy with vacuoles. Neurology. 1997;47(suppl): A195.
    • (1997) Neurology , vol.47 , Issue.SUPPL.
    • Shaibani, A.1    Harati, Y.2    Amato, A.3
  • 82
    • 0034709195 scopus 로고    scopus 로고
    • Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
    • McNally EM, Ly CT, Rosenmann H, et al. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am J Med Genet. 2000;91:305-312.
    • (2000) Am. J. Med. Genet. , vol.91 , pp. 305-312
    • McNally, E.M.1    Ly, C.T.2    Rosenmann, H.3
  • 83
    • 0035846620 scopus 로고    scopus 로고
    • Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients
    • Gallardo E, Rojas-García R, de Luna N, et al. Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients. Neurology. 2001;57:2136-2138.
    • (2001) Neurology , vol.57 , pp. 2136-2138
    • Gallardo, E.1    Rojas-García, R.2    de Luna, N.3
  • 84
    • 0035849492 scopus 로고    scopus 로고
    • The earliest pathologic alterations in dysferlinopathy
    • Selcen D, Stilling G, Engel A. The earliest pathologic alterations in dysferlinopathy. Neurology. 2001; 56:1472-1481.
    • (2001) Neurology , vol.56 , pp. 1472-1481
    • Selcen, D.1    Stilling, G.2    Engel, A.3
  • 85
    • 0033673056 scopus 로고    scopus 로고
    • Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies
    • Piccolo F, Moore SA, Ford GC, et al. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann Neurol. 2000;48:902-912.
    • (2000) Ann. Neurol. , vol.48 , pp. 902-912
    • Piccolo, F.1    Moore, S.A.2    Ford, G.C.3
  • 86
    • 0033784812 scopus 로고    scopus 로고
    • Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
    • Anderson LVB, Harrison RM, Pogue R, et al. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord. 2000;10:553-559.
    • (2000) Neuromuscul. Disord. , vol.10 , pp. 553-559
    • Anderson, L.V.B.1    Harrison, R.M.2    Pogue, R.3
  • 87
    • 0036135804 scopus 로고    scopus 로고
    • A novel blood-based diagnostic assay for limb girdle muscular dystrophy type 2B and Miyoshi myopathy
    • Ho M, Gallardo E, McKenna-Yasek D, et al. A novel blood-based diagnostic assay for limb girdle muscular dystrophy type 2B and Miyoshi myopathy. Ann Neurol. 2002;51:129-133.
    • (2002) Ann. Neurol. , vol.51 , pp. 129-133
    • Ho, M.1    Gallardo, E.2    McKenna-Yasek, D.3
  • 88
    • 0036133372 scopus 로고    scopus 로고
    • Dysferlin expression after normal myoblast transplantation in SCID and SJL mice
    • Leriche-Guérin K, Anderson LVB, Wrogemann K, et al. Dysferlin expression after normal myoblast transplantation in SCID and SJL mice. Neuromuscul Disord. 2002;12:167-173.
    • (2002) Neuromuscul. Disord. , vol.12 , pp. 167-173
    • Leriche-Guérin, K.1    Anderson, L.V.B.2    Wrogemann, K.3
  • 89
    • 0027275643 scopus 로고
    • A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
    • Ervasti JM, Campbell KP. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol. 1993;122: 809-823.
    • (1993) J. Cell. Biol. , vol.122 , pp. 809-823
    • Ervasti, J.M.1    Campbell, K.P.2
  • 90
    • 0034641599 scopus 로고    scopus 로고
    • Molecular and genetic characterization of sarcospan: Insights into sarcoglycan-sarcospan interactions
    • Crosbie RH, Lim LE, Moore SA, et al. Molecular and genetic characterization of sarcospan: Insights into sarcoglycan-sarcospan interactions. Hum Mol Genet. 2000;9:2019-2027.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2019-2027
    • Crosbie, R.H.1    Lim, L.E.2    Moore, S.A.3
  • 91
    • 0034646403 scopus 로고    scopus 로고
    • Homogeneous phenotype of the gypsy limb-girdle MD with the g-sarcoglycan C283Y mutation
    • Merlini L, Kaplan J-C, Navarro C, et al. Homogeneous phenotype of the gypsy limb-girdle MD with the g-sarcoglycan C283Y mutation. Neurology. 2000;54:1075-1079.
    • (2000) Neurology , vol.54 , pp. 1075-1079
    • Merlini, L.1    Kaplan, J.-C.2    Navarro, C.3
  • 92
    • 19244363787 scopus 로고    scopus 로고
    • Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation
    • McNally EM, Passos-Bueno, MR, Bönneman CG, et al. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am J Hum Genet. 1996;59:1040-1047.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 1040-1047
    • McNally, E.M.1    Passos-Bueno, M.R.2    Bönneman, C.G.3
  • 93
    • 0036080388 scopus 로고    scopus 로고
    • Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria
    • Mongini T, Doriguzzi C, Bosone I, et al. Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. Neuropediatrics. 2002; 33:109-111.
    • (2002) Neuropediatrics , vol.33 , pp. 109-111
    • Mongini, T.1    Doriguzzi, C.2    Bosone, I.3
  • 94
    • 0035021945 scopus 로고    scopus 로고
    • Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria
    • Cagliani R, Comi GP, Tancredi L, et al. Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. Neuromuscul Disord. 2001;11:389-394.
    • (2001) Neuromuscul. Disord. , vol.11 , pp. 389-394
    • Cagliani, R.1    Comi, G.P.2    Tancredi, L.3
  • 95
    • 0035097338 scopus 로고    scopus 로고
    • Evaluation of cardiac and respiratory involvement in sarcogly-canopathies
    • Politano L, Nigro V, Passamano L, et al. Evaluation of cardiac and respiratory involvement in sarcogly-canopathies. Neuromuscul Disord. 2001;11:178-185.
    • (2001) Neuromuscul. Disord. , vol.11 , pp. 178-185
    • Politano, L.1    Nigro, V.2    Passamano, L.3
  • 96
    • 0034623959 scopus 로고    scopus 로고
    • Expression of γ-sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex
    • Barresi R, Moore SA, Stolle CA, et al. Expression of γ-sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. J Biol Chem. 2000;275:38554-38560.
    • (2000) J. Biol. Chem. , vol.275 , pp. 38554-38560
    • Barresi, R.1    Moore, S.A.2    Stolle, C.A.3
  • 97
    • 17944378309 scopus 로고    scopus 로고
    • Mutations in the gene encoding E-sarcoglycan cause myoclonus-dystonia syndrome
    • Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding E-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet. 2001;29: 66-69.
    • (2001) Nat. Genet. , vol.29 , pp. 66-69
    • Zimprich, A.1    Grabowski, M.2    Asmus, F.3
  • 98
    • 0033818186 scopus 로고    scopus 로고
    • Mutations in the human δ-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
    • Tsubata S, Bowles KR, Vatta M, et al. Mutations in the human δ-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest. 2000; 106:655-662.
    • (2000) J. Clin. Invest. , vol.106 , pp. 655-662
    • Tsubata, S.1    Bowles, K.R.2    Vatta, M.3
  • 99
    • 0035114423 scopus 로고    scopus 로고
    • Isolated loss of γ-sarcoglycan: Diagnostic implications in autosomal recessive limb-girdle muscular dystrophy
    • Vorgerd M, Glencik M, Mortier J, et al. Isolated loss of γ-sarcoglycan: Diagnostic implications in autosomal recessive limb-girdle muscular dystrophy. Muscle Nerve. 2001;24:421-424.
    • (2001) Muscle Nerve , vol.24 , pp. 421-424
    • Vorgerd, M.1    Glencik, M.2    Mortier, J.3
  • 100
    • 0034042820 scopus 로고    scopus 로고
    • Partial α-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family
    • Vainzof M, Moreira ES, Canovas M, et al. Partial α-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family. Muscle Nerve. 2000;23:984-988.
    • (2000) Muscle Nerve , vol.23 , pp. 984-988
    • Vainzof, M.1    Moreira, E.S.2    Canovas, M.3
  • 101
    • 0033843869 scopus 로고    scopus 로고
    • Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice
    • Allamand V, Donahue KM, Straub V, et al. Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice. Gene Ther. 2000;7:1385-1391.
    • (2000) Gene Ther. , vol.7 , pp. 1385-1391
    • Allamand, V.1    Donahue, K.M.2    Straub, V.3
  • 102
    • 0034138226 scopus 로고    scopus 로고
    • Rescue of skeletal muscles of γ-sarcoglycan-deficient mice with adeno-associated virus-mediated gene transfer
    • Cordier L, Hack AA, Scott MO, et al. Rescue of skeletal muscles of γ-sarcoglycan-deficient mice with adeno-associated virus-mediated gene transfer. Mol Ther. 2001:119-129.
    • (2001) Mol Ther. , pp. 119-129
    • Cordier, L.1    Hack, A.A.2    Scott, M.O.3
  • 103
    • 17444380351 scopus 로고    scopus 로고
    • Gene transfer clinical trial for limb girdle muscular dystrophy type 2D (alpha-sarcoglycan deficiency)
    • Mendell JR, Stedman H, Moore SA, et al. Gene transfer clinical trial for limb girdle muscular dystrophy type 2D (alpha-sarcoglycan deficiency). Neurology. 2002;58(suppl 3):SA169.
    • (2002) Neurology , vol.58 , Issue.SUPPL. 3
    • Mendell, J.R.1    Stedman, H.2    Moore, S.A.3
  • 104
    • 18644362379 scopus 로고    scopus 로고
    • Telethonin protein expression in neuromuscular disorders
    • Vainzof M, Moreira ES, Suzuki OT, et al. Telethonin protein expression in neuromuscular disorders. Biochim Biophys Acta. 2002;1588:33-40.
    • (2002) Biochim. Biophys. Acta , vol.1588 , pp. 33-40
    • Vainzof, M.1    Moreira, E.S.2    Suzuki, O.T.3
  • 105
    • 0033954004 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
    • Moreira ES, Wiltshire TJ, Faulkner G, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet. 2000;24:163-166.
    • (2000) Nat. Genet. , vol.24 , pp. 163-166
    • Moreira, E.S.1    Wiltshire, T.J.2    Faulkner, G.3
  • 106
    • 0037184992 scopus 로고    scopus 로고
    • The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy
    • Knoll R, Hoshijima M, Hoffman HM, et al. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell. 2002;111: 943-955.
    • (2002) Cell , vol.111 , pp. 943-955
    • Knoll, R.1    Hoshijima, M.2    Hoffman, H.M.3
  • 107
    • 0030765309 scopus 로고    scopus 로고
    • The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12
    • Moreira ES, Vainzof M, Marie SK, et al. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet. 1997;61:151-159.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 151-159
    • Moreira, E.S.1    Vainzof, M.2    Marie, S.K.3
  • 108
    • 0017259056 scopus 로고
    • Autosomal recessive muscular dystrophy in Manitoba Hutterites
    • Shokeir MHK, Kobrinsky NL. Autosomal recessive muscular dystrophy in Manitoba Hutterites. Clin Genet. 1976;9:197-202.
    • (1976) Clin. Genet. , vol.9 , pp. 197-202
    • Shokeir, M.H.K.1    Kobrinsky, N.L.2
  • 109
    • 0032231939 scopus 로고    scopus 로고
    • A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: Evidence for another limb-girdle muscular dystrophy locus
    • Weiler T, Greenberg CR, Zelinski T, et al. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: Evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet. 1998;63:140-147.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 140-147
    • Weiler, T.1    Greenberg, C.R.2    Zelinski, T.3
  • 110
    • 0036179479 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene
    • Frosk P, Weiler T, Nylen E, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet. 2002;70:663-672.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 663-672
    • Frosk, P.1    Weiler, T.2    Nylen, E.3
  • 111
    • 0034214277 scopus 로고    scopus 로고
    • A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
    • Driss A, Amouri R, Ben Hamida C, et al. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromuscul Disord. 2000;10:240-246.
    • (2000) Neuromuscul. Disord. , vol.10 , pp. 240-246
    • Driss, A.1    Amouri, R.2    Ben Hamida, C.3
  • 112
    • 0035212037 scopus 로고    scopus 로고
    • Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan
    • Brockington M, Blake DJ, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan. Am J Hum Genet. 2001;69:1198-1209.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1198-1209
    • Brockington, M.1    Blake, D.J.2    Prandini, P.3
  • 113
    • 18244375299 scopus 로고    scopus 로고
    • Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
    • Brockington M, Yuva Y, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 2001;10:2851-2859.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2851-2859
    • Brockington, M.1    Yuva, Y.2    Prandini, P.3
  • 114
    • 0037461326 scopus 로고    scopus 로고
    • Fukutin-related protein gene mutated in the original limb-girdle muscular dystrophy 2I
    • Driss A, Noguchi S, Amouri R, et al. Fukutin-related protein gene mutated in the original limb-girdle muscular dystrophy 2I. Neurology. 2003;60:1341-1344.
    • (2003) Neurology , vol.60 , pp. 1341-1344
    • Driss, A.1    Noguchi, S.2    Amouri, R.3
  • 115
    • 0037461292 scopus 로고    scopus 로고
    • The phenotype of limb-girdle muscular dystrophy type 2I
    • Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology. 2003;60:1246-1251.
    • (2003) Neurology , vol.60 , pp. 1246-1251
    • Poppe, M.1    Cree, L.2    Bourke, J.3
  • 116
    • 0036300228 scopus 로고    scopus 로고
    • Weakness of a giant: Mutations of the sarcomeric protein titin
    • Hein S, Schaper J. Weakness of a giant: Mutations of the sarcomeric protein titin. Trends Mol Med. 2002;8:311-313.
    • (2002) Trends Mol. Med. , vol.8 , pp. 311-313
    • Hein, S.1    Schaper, J.2
  • 117
    • 0036723943 scopus 로고    scopus 로고
    • Tibial muscular dystrophy is a titinopathy caused by mutations in TIN, the gene encoding the giant skeletal muscle protein titin
    • Hackman P, Vihola A, Haravuori H, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TIN, the gene encoding the giant skeletal muscle protein titin. Am J Hum Genet. 2002;71: 492-500.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 492-500
    • Hackman, P.1    Vihola, A.2    Haravuori, H.3
  • 118
    • 0036478897 scopus 로고    scopus 로고
    • Mutations of TIN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
    • Gerull B, Gramlich M, Atherton J, et al. Mutations of TIN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet. 2002;30:201-204.
    • (2002) Nat. Genet. , vol.30 , pp. 201-204
    • Gerull, B.1    Gramlich, M.2    Atherton, J.3
  • 119
    • 0026621979 scopus 로고
    • Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy
    • Udd B, Rapola J, Nokelainen P, et al. Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy. J Neurol Sci. 1992;113:214-221.
    • (1992) J. Neurol. Sci. , vol.113 , pp. 214-221
    • Udd, B.1    Rapola, J.2    Nokelainen, P.3
  • 120
    • 0035836751 scopus 로고    scopus 로고
    • Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene
    • Haravuori H, Vihola A, Straub V, et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene. Neurology. 2001; 56:869-877.
    • (2001) Neurology , vol.56 , pp. 869-877
    • Haravuori, H.1    Vihola, A.2    Straub, V.3
  • 121
    • 0035707910 scopus 로고    scopus 로고
    • The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin
    • Garvey SM, Rajan C, Lerner AP, et al. The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. Genomics. 2002;79:146-149.
    • (2002) Genomics , vol.79 , pp. 146-149
    • Garvey, S.M.1    Rajan, C.2    Lerner, A.P.3
  • 122
    • 0013072232 scopus 로고    scopus 로고
    • Diagnosing rare neuromuscular diseases-the jump from research to service
    • Anderson LVB, Bushby KMD, Hanna MG, et al. Diagnosing rare neuromuscular diseases-the jump from research to service. J Neurol Sci. 2002; 199(suppl):S72.
    • (2002) J. Neurol. Sci. , vol.199 , Issue.SUPPL.
    • Anderson, L.V.B.1    Bushby, K.M.D.2    Hanna, M.G.3
  • 123
    • 0034689207 scopus 로고    scopus 로고
    • Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: Alpha-, beta-, gamma-, or delta- sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors
    • Stedman H, Wilson JM, Finke R, et al. Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: Alpha-, beta-, gamma-, or delta- sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors. Hum Gene Ther. 2000;11:777-790.
    • (2000) Hum. Gene Ther. , vol.11 , pp. 777-790
    • Stedman, H.1    Wilson, J.M.2    Finke, R.3
  • 124
    • 0036796396 scopus 로고    scopus 로고
    • Experimental and therapeutic approaches to muscular dystrophies
    • Skuk D, Vilquin JT, Tremblay JP. Experimental and therapeutic approaches to muscular dystrophies. Curr Opin Neurol. 2002;15:563-569.
    • (2002) Curr. Opin. Neurol. , vol.15 , pp. 563-569
    • Skuk, D.1    Vilquin, J.T.2    Tremblay, J.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.