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Volumn 23, Issue 1, 2004, Pages 1-5

Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood

Author keywords

LGMD2D; Muscular dystrophy; Respiratory insufficiency; Sarcoglycanopathy; SGCA gene

Indexed keywords

CAVEOLIN; CREATINE KINASE; DNA; DYSFERLIN; DYSTROPHIN; MEROSIN; SARCOGLYCAN;

EID: 2642573589     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (17)

References (10)
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  • 2
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    • The 10 autosomal recessive limb-girdle muscular dystrophies
    • Zatz M, de Paula F, Starling A, Vainzof M. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromusc Disord 2003;13:532-44.
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  • 3
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    • Molecular bases of autosomal recessive limb-girdle muscular dystrophies
    • Nigro V. Molecular bases of autosomal recessive limb-girdle muscular dystrophies. Acta Myol 2003;22:35-42.
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    • Nigro, V.1
  • 4
    • 0031042885 scopus 로고    scopus 로고
    • Mutations in the sarcoglycan genes in patients with myopathy
    • Duggan DJ, Gorospe JR, Fanin M, et al. Mutations in the sarcoglycan genes in patients with myopathy. NEJM 1997;336:618-24.
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  • 5
    • 0029319426 scopus 로고
    • Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
    • Piccolo F, Roberds SL, Jeanpierre M, et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet 1995;10:243-5.
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    • Piccolo, F.1    Roberds, S.L.2    Jeanpierre, M.3
  • 6
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    • A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
    • Passos-Bueno MR, Moreira ES, Vainzof M, et al. A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Hum Mol Genet 1995;4:1163-7.
    • (1995) Hum Mol Genet , vol.4 , pp. 1163-1167
    • Passos-Bueno, M.R.1    Moreira, E.S.2    Vainzof, M.3
  • 7
    • 0030951089 scopus 로고    scopus 로고
    • Primary SGCAopathy (α-sarcoglycanopathy): Clinical, pathologic and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
    • Eymard B, Romero N, Leturcq F, et al. Primary SGCAopathy (α-sarcoglycanopathy): clinical, pathologic and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997;48:1227-34.
    • (1997) Neurology , vol.48 , pp. 1227-1234
    • Eymard, B.1    Romero, N.2    Leturcq, F.3
  • 8
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  • 9
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    • Moreira ES, Vainzof M, Suzuki OT, et al. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. J Med Genet 2003;40:12.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.