Caveolin-3 Mutations in Rippling Muscle Disease

J Gordon Millichap

doi:10.15844/pedneurbriefs-17-5-7

Caveolin-3 Mutations in Rippling Muscle Disease

Pediatric Neurology Briefs

Volume 17 (2003): Issue 5

By: J Gordon Millichap

Open Access

|May 2003

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.

References

Kubisch C Schoser BG von Düring M Betz RC Goebel HH Zahn S Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease Ann Neurol 2003 Apr 53 4 512 20 10.1002/ana.10501 12666119
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-17-5-7 | Journal eISSN: 2166-6482

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Language: English

Page range: 39 - 40

Published on: May 1, 2003

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Caveolin-3,

Rippling Muscle Disease,

Skeletal Muscles

© 2003 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 17 (2003): Issue 5