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Volumn 10, Issue 4, 2007, Pages 214-224

Limb girdle muscular dystrophies: The clinicopathological viewpoint

Author keywords

Calpainopathies; Diagnosis; Dysferlinopathies; Genetics; Limb girdle muscular dystrophy; Muscle pathology; Sarcoglycanopathies

Indexed keywords

CALPAIN 3;

EID: 38348998594     PISSN: 09722327     EISSN: None     Source Type: Journal    
DOI: 10.4103/0972-2327.37813     Document Type: Review
Times cited : (2)

References (42)
  • 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
    • 0001302916 scopus 로고
    • Ueber die 'Juvenile Form' des progressiven Muskelatrophie ihre Beziehungen zur sogennten Psuedohypetrophie der Muskeln
    • Erb W. Ueber die 'Juvenile Form' des progressiven Muskelatrophie ihre Beziehungen zur sogennten Psuedohypetrophie der Muskeln. Dtsch Arch Klin Med 1884;34:467-519.
    • (1884) Dtsch Arch Klin Med , vol.34 , pp. 467-519
    • Erb, W.1
  • 4
    • 0031722943 scopus 로고    scopus 로고
    • The sarcoglycan complex in limb-girdle muscular dystrophy
    • Lim L, Campbell K. The sarcoglycan complex in limb-girdle muscular dystrophy. Curr Opin Neurol 1998;11:443-52.
    • (1998) Curr Opin Neurol , vol.11 , pp. 443-452
    • Lim, L.1    Campbell, K.2
  • 5
    • 0029334512 scopus 로고
    • st ENMC International workshop - the limb-girdle muscular dystrophies and proposal for a new nomenclature
    • st ENMC International workshop - the limb-girdle muscular dystrophies and proposal for a new nomenclature. Neuromuscul Disord 1995;5:337-43.
    • (1995) Neuromuscul Disord , vol.5 , pp. 337-343
    • Bushby, K.1    Beckmann, J.2
  • 7
    • 3142717832 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophies - from genetics to molecular pathology
    • Laval SH, Bushby KM. Limb-girdle muscular dystrophies - from genetics to molecular pathology. Neuropathol Appl Neurobiol 2004;30:91-105.
    • (2004) Neuropathol Appl Neurobiol , vol.30 , pp. 91-105
    • Laval, S.H.1    Bushby, K.M.2
  • 8
    • 0028905205 scopus 로고
    • Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
    • Richard I, Broux O, Allamand V, Fougerousse F, Chiannikulchai N, Bourg N, et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995;81: 27-40.
    • (1995) Cell , vol.81 , pp. 27-40
    • Richard, I.1    Broux, O.2    Allamand, V.3    Fougerousse, F.4    Chiannikulchai, N.5    Bourg, N.6
  • 9
    • 20144388364 scopus 로고    scopus 로고
    • An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene
    • Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord 2005;15:271-5.
    • (2005) Neuromuscul Disord , vol.15 , pp. 271-275
    • Balci, B.1    Uyanik, G.2    Dincer, P.3    Gross, C.4    Willer, T.5    Talim, B.6
  • 11
    • 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, Brown SC, Torelli S, Benson MA, 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;10:2851-9.
    • (2001) Hum Mol Genet , vol.10 , pp. 2851-2859
    • Brockington, M.1    Yuva, Y.2    Prandini, P.3    Brown, S.C.4    Torelli, S.5    Benson, M.A.6
  • 12
    • 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, Sudha T, Greenberg CR, Morgan K, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet 2002;70:663-72.
    • (2002) Am J Hum Genet , vol.70 , pp. 663-672
    • Frosk, P.1    Weiler, T.2    Nylen, E.3    Sudha, T.4    Greenberg, C.R.5    Morgan, K.6
  • 13
    • 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, Nilforoushan A, Vainzof M, Suzuki OT, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000;24:163-6.
    • (2000) Nat Genet , vol.24 , pp. 163-166
    • Moreira, E.S.1    Wiltshire, T.J.2    Faulkner, G.3    Nilforoushan, A.4    Vainzof, M.5    Suzuki, O.T.6
  • 15
    • 0036723943 scopus 로고    scopus 로고
    • Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
    • Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, 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    Marchand, S.4    Sarparanta, J.5    De Seze, J.6
  • 16
    • 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 AJ, van Meegen M, Baas F, Bolhuis PA, 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;9:1453-9.
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    van der Kooi, A.J.3    van Meegen, M.4    Baas, F.5    Bolhuis, P.A.6
  • 18
    • 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, Feingold N, Feingold J, Mignard D, 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    Feingold, N.4    Feingold, J.5    Mignard, D.6
  • 20
    • 0031691228 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy in Guipuzcoa (Basque country, Spain)
    • Urtasun M, Saenz A, Roudaut C, Poza J, Urtizberea J, Cobo A, et al. Limb-girdle muscular dystrophy in Guipuzcoa (Basque country, Spain). Brain 1998;121:1735-47.
    • (1998) Brain , vol.121 , pp. 1735-1747
    • Urtasun, M.1    Saenz, A.2    Roudaut, C.3    Poza, J.4    Urtizberea, J.5    Cobo, A.6
  • 22
    • 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, Wu C, Fardeau M, Angelini C, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-6.
    • (1998) Nat Genet , vol.20 , pp. 31-36
    • Liu, J.1    Aoki, M.2    Illa, I.3    Wu, C.4    Fardeau, M.5    Angelini, C.6
  • 24
    • 0032897762 scopus 로고    scopus 로고
    • Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
    • Weiler T, Bashir R, Anderson L, Davison K, Moss J, Britton S, et al. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet 1999;8:871-7.
    • (1999) Hum Mol Genet , vol.8 , pp. 871-877
    • Weiler, T.1    Bashir, R.2    Anderson, L.3    Davison, K.4    Moss, J.5    Britton, S.6
  • 25
    • 0028146869 scopus 로고
    • Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
    • Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994;78:625-33.
    • (1994) Cell , vol.78 , pp. 625-633
    • Roberds, S.L.1    Leturcq, F.2    Allamand, V.3    Piccolo, F.4    Jeanpierre, M.5    Anderson, R.D.6
  • 26
    • 0028883973 scopus 로고
    • Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
    • Noguchi S, McNally E, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995;270:819-22.
    • (1995) Science , vol.270 , pp. 819-822
    • Noguchi, S.1    McNally, E.2    Ben Othmane, K.3    Hagiwara, Y.4    Mizuno, Y.5    Yoshida, M.6
  • 27
    • 0028971219 scopus 로고
    • Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
    • Bönnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, et al. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995;11:266-73.
    • (1995) Nat Genet , vol.11 , pp. 266-273
    • Bönnemann, C.G.1    Modi, R.2    Noguchi, S.3    Mizuno, Y.4    Yoshida, M.5    Gussoni, E.6
  • 28
    • 0028971221 scopus 로고
    • Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
    • Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, et al. Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995;11:257-85.
    • (1995) Nat Genet , vol.11 , pp. 257-285
    • Lim, L.E.1    Duclos, F.2    Broux, O.3    Bourg, N.4    Sunada, Y.5    Allamand, V.6
  • 29
    • 0029816797 scopus 로고    scopus 로고
    • Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
    • Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 1996;14:195-8.
    • (1996) Nat Genet , vol.14 , pp. 195-198
    • Nigro, V.1    de Sa Moreira, E.2    Piluso, G.3    Vainzof, M.4    Belsito, A.5    Politano, L.6
  • 30
    • 0030951089 scopus 로고    scopus 로고
    • Primary adhalinopathy (alpha-sarcoglycanopathy): Clinical, pathological and genetic correlation in twenty patients with autosomal recessive muscular dystrophy
    • Eymard B, Romero NB, Leturcq F, Piccolo F, Carrié A, Jeanpierre M, et al. Primary adhalinopathy (alpha-sarcoglycanopathy): Clinical, pathological and genetic correlation in twenty patients with autosomal recessive muscular dystrophy. Neurology 1997;48:1227-34.
    • (1997) Neurology , vol.48 , pp. 1227-1234
    • Eymard, B.1    Romero, N.B.2    Leturcq, F.3    Piccolo, F.4    Carrié, A.5    Jeanpierre, M.6
  • 32
    • 0032929386 scopus 로고    scopus 로고
    • Multiplex Western blotting system for the analysis of muscular dystrophy proteins
    • Anderson LV, Davison K. Multiplex Western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 1999;154:1017-22.
    • (1999) Am J Pathol , vol.154 , pp. 1017-1022
    • Anderson, L.V.1    Davison, K.2
  • 33
    • 0034646403 scopus 로고    scopus 로고
    • Homogeneous phenotype of the gypsy limb-girdle muscular dystrophy with the gamma-sarcoglycan C283Y mutation
    • Merlini L, Kaplan JC, Navarro C, Barois A, Bonneau D, Brasa J, et al. Homogeneous phenotype of the gypsy limb-girdle muscular dystrophy with the gamma-sarcoglycan C283Y mutation. Neurology 2000;54:1075-9.
    • (2000) Neurology , vol.54 , pp. 1075-1079
    • Merlini, L.1    Kaplan, J.C.2    Navarro, C.3    Barois, A.4    Bonneau, D.5    Brasa, J.6
  • 34
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • Bonne GB, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-8.
    • (1999) Nat Genet , vol.21 , pp. 285-288
    • Bonne, G.B.1    Di Barletta, M.R.2    Varnous, S.3    Bécane, H.M.4    Hammouda, E.H.5    Merlini, L.6
  • 35
    • 0031920515 scopus 로고    scopus 로고
    • Mutations in the caveolin-3 gene cause autosomal dominant limbgirdle muscular dystrophy
    • Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, et al. Mutations in the caveolin-3 gene cause autosomal dominant limbgirdle muscular dystrophy. Nat Genet 1998;18:365-8.
    • (1998) Nat Genet , vol.18 , pp. 365-368
    • Minetti, C.1    Sotgia, F.2    Bruno, C.3    Scartezzini, P.4    Broda, P.5    Bado, M.6
  • 36
    • 15444348850 scopus 로고    scopus 로고
    • A biochemical, genetic and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
    • Dinçer P, Leturcq F, Richard I, Piccolo F, Yalnizoglu D, de Toma C, et al. A biochemical, genetic and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. Ann Neurol 1997;42:222-9.
    • (1997) Ann Neurol , vol.42 , pp. 222-229
    • Dinçer, P.1    Leturcq, F.2    Richard, I.3    Piccolo, F.4    Yalnizoglu, D.5    de Toma, C.6
  • 37
    • 0033582745 scopus 로고    scopus 로고
    • Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G
    • Passos-Bueno M, Vainzof M, Moreira E, Zatz M. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G. Am J Med Genet 1999;82:392-8.
    • (1999) Am J Med Genet , vol.82 , pp. 392-398
    • Passos-Bueno, M.1    Vainzof, M.2    Moreira, E.3    Zatz, M.4
  • 39
    • 0035515560 scopus 로고    scopus 로고
    • Adhalin deficiency: An unusual cause of muscular dystrophy
    • Dua T, Kalra V, Sharma MC, Kabra M. Adhalin deficiency: An unusual cause of muscular dystrophy. Indian J Pediatr 2001;68:1083-5.
    • (2001) Indian J Pediatr , vol.68 , pp. 1083-1085
    • Dua, T.1    Kalra, V.2    Sharma, M.C.3    Kabra, M.4
  • 42
    • 34447638686 scopus 로고    scopus 로고
    • Ins and outs of therapy in limb girdle muscular dystrophies
    • Daniele N, Richard I, Bartoli M. Ins and outs of therapy in limb girdle muscular dystrophies. Int J Biochem Cell Biol 2007;39:1608-24.
    • (2007) Int J Biochem Cell Biol , vol.39 , pp. 1608-1624
    • Daniele, N.1    Richard, I.2    Bartoli, M.3


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