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Volumn 32, Issue 6, 2005, Pages 812-814

Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

Author keywords

Distal myopathy; Dysferlin; GNE; Late onset myopathy; Rimmed vacuoles

Indexed keywords

CAVEOLIN 3; DYSFERLIN; EMERIN; EPIMERASE; GENE PRODUCT; LAMIN A; LAMIN C; MANNOSAMINE; N ACETYLMANNOSAMINE KINASE; PROTEIN GNE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

EID: 28544441729     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.20417     Document Type: Article
Times cited : (5)

References (8)
  • 1
    • 17944366749 scopus 로고    scopus 로고
    • The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
    • Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001;29:83-87.
    • (2001) Nat Genet , vol.29 , pp. 83-87
    • Eisenberg, I.1    Avidan, N.2    Potikha, T.3    Hochner, H.4    Chen, M.5    Olender, T.6
  • 2
    • 0035880516 scopus 로고    scopus 로고
    • The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
    • Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001;10:1761-1766.
    • (2001) Hum Mol Genet , vol.10 , pp. 1761-1766
    • Matsuda, C.1    Hayashi, Y.K.2    Ogawa, M.3    Aoki, M.4    Murayama, K.5    Nishino, I.6
  • 3
    • 0442274441 scopus 로고    scopus 로고
    • Autophagic vacuolar myopathies
    • Nishino I. Autophagic vacuolar myopathies. Curr Neurol Neurosci Rep 2003;3:64-69.
    • (2003) Curr Neurol Neurosci Rep , vol.3 , pp. 64-69
    • Nishino, I.1
  • 4
    • 0037058765 scopus 로고    scopus 로고
    • Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
    • Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 2002;59:1689-1693.
    • (2002) Neurology , vol.59 , pp. 1689-1693
    • Nishino, I.1    Noguchi, S.2    Murayama, K.3    Driss, A.4    Sugie, K.5    Oya, Y.6
  • 5
    • 10744219571 scopus 로고    scopus 로고
    • Dysferlin mutations in Japanese Miyoshi myopathy: Relationship to phenotype
    • Takahashi T, Aoki M, Tateyama M, Kondo E, Mizuno T, Onodera Y, et al. Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. Neurology 2003;60:1799-1804.
    • (2003) Neurology , vol.60 , pp. 1799-1804
    • Takahashi, T.1    Aoki, M.2    Tateyama, M.3    Kondo, E.4    Mizuno, T.5    Onodera, Y.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.