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

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84 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 languageEnglish
Pages (from-to)323-325
Number of pages3
JournalNeurology
Volume58
Issue number2
DOIs
Publication statusPublished - 2002 Jan 22

ASJC Scopus subject areas

  • Clinical Neurology

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