Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation
2005; Lippincott Williams & Wilkins; Volume: 65; Issue: 8 Linguagem: Inglês
10.1212/01.wnl.0000180963.85963.73
ISSN1526-632X
AutoresR. E. Madrid, Christian Kubisch, Arthur P. Hays,
Tópico(s)Cardiomyopathy and Myosin Studies
ResumoThe authors describe a family with autosomal dominant rippling muscle disease (RMD) and prominent early-onset toe walking. Molecular analysis revealed a novel heterozygous G > A transition at nucleotide position 136 in exon 2 of the caveolin-3 gene (CAV3). The role of Achilles tendon lengthening in more severe forms of RMD is discussed.
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