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

M. Tateyama; M. Aoki; I. Nishino; Y. K. Hayashi; S. Sekiguchi; Y. Shiga; T. Takahashi; Y. Onodera; K. Haginoya; K. Kobayashi; K. Iinuma; I. Nonaka; K. Arahata; Y. Itoyoma

doi:10.1212/WNL.58.2.323

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

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

MED - Medical Sciences

Research output: Contribution to journal › Article › peer-review

59 Citations (Scopus)

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.

Original language	English
Pages (from-to)	323-325
Number of pages	3
Journal	Neurology
Volume	58
Issue number	2
DOIs	https://doi.org/10.1212/WNL.58.2.323
Publication status	Published - 2002 Jan 22

ASJC Scopus subject areas

Clinical Neurology

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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.",

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AU - Tateyama, M.

AU - Aoki, M.

AU - Nishino, I.

AU - Hayashi, Y. K.

AU - Sekiguchi, S.

AU - Shiga, Y.

AU - Takahashi, T.

AU - Onodera, Y.

AU - Haginoya, K.

AU - Kobayashi, K.

AU - Iinuma, K.

AU - Nonaka, I.

AU - Arahata, K.

AU - Itoyoma, Y.

PY - 2002/1/22

Y1 - 2002/1/22

N2 - 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.

AB - 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.

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

Abstract

ASJC Scopus subject areas

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