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Article

A new missense mutation in caveolin-3 gene causes rippling muscle disease.

Journal of the neurological sciences - 15 Apr 2006

Dotti M Teresa, Malandrini Alessandro, Gambelli Simona, Salvadori Claudio, De Stefano Nicola, Federico Antonio

Abstract excerpt

Mutations of the Cav-3 gene are associated with distinct, sometimes overlapping muscle disease phenotypes. We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene.

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Identifiers

PMID: 16458928
DOI: 10.1016/j.jns.2005.11.032

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