Art

J-GLOBAL ID：200902141159401043   Reference number：03A0093129

Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy.

ネマリン筋障害の乳児筋肉内のネマリンと細胞質小体の共存

Author (7)： SUWA K (Jichi Medical School, Tochigi, JPN) ,  MIZUGUCHI M (Jichi Medical School, Tochigi, JPN) ,  MOMOI M Y (Jichi Medical School, Tochigi, JPN) ,  NAKAMURA M (Tokyo Inst. Psychiatry, Tokyo, JPN) ,  ARIMA K (Tokyo Inst. Psychiatry, Tokyo, JPN) ,  KOMAKI H (National Center of Neurology and Psychiatry, Kodaira, JPN) ,  NONAKA I (National Center of Neurology and Psychiatry, Kodaira, JPN)
Material： Neuropathology
Volume： 22  Issue： 4  Page： 294-298  Publication year： Dec. 2002 
JST Material Number： W0751A  ISSN： 0919-6544  Document type： Article
Article type： 短報  Country of issue： Australia (AUS)  Language： ENGLISH (EN)

Thesaurus term： *muscular disease ,...
Semi thesaurus term： ネマリン筋障害 ,...

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JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Reference (20)：

• SHY, GM. Nemaline myopathy : a new congenital myopathy. Brain. 1963, 86, 793-810
• SHIMOMURA, C. Nemaline myopathy. Comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms. Pediatric Neurol. 1989, 5, 25-31
• LAING, NG. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nature Genet. 1995, 9, 75-79
• PELIN, K. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA. 1999, 96, 2305-2310
• NOWAK, KJ. Mutations in the skeletal muscle alpha actin gene in patients with actin myopathy and nemaline myopathy. Nature Genet. 1999, 23, 208-212

Terms in the title (5)： ネマリン筋障害 ,  乳児 ,  筋肉 ,  細胞質 ,  共存