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

被引：70

作者：

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

Itoyoma, Y

机构：

[1] Tohoku Univ, Sch Med, Dept Neurol, Aoba Ku, Sendai, Miyagi 9808574, Japan

[2] Tohoku Univ, Sch Med, Dept Pediat, Aoba Ku, Sendai, Miyagi 9808574, Japan

[3] Natl Ctr Neurol & Psychiat, Dept Ultrastruct Res, Tokyo, Japan

[4] Natl Ctr Neurol & Psychiat, Dept Neuromuscular Res, Tokyo, Japan

[5] Yamagata City Hosp Saiseikan, Dept Neurol, Yamagata, Japan

来源：

NEUROLOGY | 2002年 / 58卷 / 02期

关键词：

D O I：

10.1212/WNL.58.2.323

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：323 / 325

页数：3

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