Caveolin-3 Mutations in Rippling Muscle Disease
DOI:
https://doi.org/10.15844/pedneurbriefs-17-5-7Keywords:
Caveolin-3, Rippling Muscle Disease, Skeletal MusclesAbstract
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.Published
2003-05-01
Issue
Section
Neuromuscular Disorders
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Copyright (c) 2003 The Author(s)
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