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Article

A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease.

Journal of the neurological sciences - 15 Sept 2007

Bae Jong Seok, Ki Chang-Seok, Kim Jong-Won, Suh Yeon-Lim, Park Min Soo, Kim Byung Joon, Kim Sung-Jae

Abstract excerpt

Rippling muscle disease (RMD) is a rare form of myopathy that is characterized by percussion-induced rapid muscle contractions, muscle mounding, and rippling. Recently a caveolin-3 gene (CAV3) mutation was identified in patients suffering from autosomal dominant RMD. We encountered a Korean male patient with RMD who had suffered from muscle stiffness for 3 years. Mutation analysis of the CAV3 gene revealed the...

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Caveolin 3
Electromyography
Gene Deletion
Inheritance Patterns
Korea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Muscular Diseases

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Identifiers

PMID: 17524427
DOI: 10.1016/j.jns.2007.04.023

Genes

CAV3

Variants

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