Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy

Neurology

Volumn 58, Issue 2, 2002, Pages 323-325

  Tateyama, M ^a,e   Aoki, M ^a   Nishino, I ^b,c   Hayashi, Y K ^c   Sekiguchi, S ^a   Shiga, Y ^a   Takahashi, T ^a   Onodera, Y ^a   Haginoya, K ^a   Kobayashi, K ^d   Iinuma, K ^a   Nonaka, I ^b   Arahata, K ^c   Itoyoma, Y ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b National Center of Neurology and Psychiatry   (United States)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^d Yamagata City Hospital   (Japan)

^e TOHOKU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; AMINO ACID; CAVEOLIN 3; CREATINE KINASE; GUANINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DISTAL MYOPATHY; FEMALE; FOOT; GENE MUTATION; GENETIC ANALYSIS; HAND MUSCLE; HUMAN; MUSCLE ATROPHY; PRIORITY JOURNAL;

EID: 0037154197     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.2.323     Document Type: Article

References (10)

1. Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells
2. VIP21/caveolin is a cholesterol-binding protein
3. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
4. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
5. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
6. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
7. Myopathia distalis tarda hereditaria
8. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
9. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
10. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies