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

Abstract:

:The authors describe a patient with sporadic distal myopathy associated with reduced caveolin-3 in muscle fibers in which the muscle atrophy was restricted to the small muscles of the hands and feet. Gene analysis disclosed a heterozygous 80 G-->A substitution in the caveolin-3 gene that was identical to that of reported cases of elevated serum creatine kinase. This patient further demonstrated possible clinical heterogeneity of myopathies with mutations in the caveolin-3 gene.

journal_name

Neurology

journal_title

Neurology

authors

Tateyama M,Aoki M,Nishino I,Hayashi YK,Sekiguchi S,Shiga Y,Takahashi T,Onodera Y,Haginoya K,Kobayashi K,Iinuma K,Nonaka I,Arahata K,Itoyama Y

doi

10.1212/wnl.58.2.323

subject

Has Abstract

pub_date

2002-01-22 00:00:00

pages

323-5

issue

2

eissn

0028-3878

issn

1526-632X

journal_volume

58

pub_type

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