Published 2003 | Version v1.0.0
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Caveolin-3 Mutations in Rippling Muscle Disease

Abstract

Two unrelated patients with novel homozygous missense mutations (L86P and A92T) in caveolin-3 gene (CAV3), presenting with a severe form of rippling muscle disease (RMD), are reported from the University of Bonn, and other centers in Germany.

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PNB-17-39-b

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Created
2003
When the item was originally created.