A novel mutation in theGNE gene and a linkage disequilibrium in Japanese pedigrees-Reference-Cited by-同舟云学术

A novel mutation in theGNE gene and a linkage disequilibrium in Japanese pedigrees

Published:2002-09-25 Issue:4 Volume:52 Page:516-519
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Arai Aki,Tanaka Keiko,Ikeuchi Takeshi,Igarashi Shuichi,Kobayashi Hisashi,Asaka Tomoya,Date Hidetoshi,Saito Masaaki,Tanaka Hajime,Kawasaki Sari,Uyama Eiichiro,Mizusawa Hidehiro,Fukuhara Nobuyoshi,Tsuji Shoji

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference20 articles.

1. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

2. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

3. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation

4. Distal Myopathy Histochemical and Ultrastructural Studies

5. Hereditary distal myopathy with filamentous inclusions

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