Caveolin-3 Mutations in Rippling Muscle Disease
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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| Format: | Article |
| Language: | English |
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Pediatric Neurology Briefs Publishers
2003-05-01
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| Series: | Pediatric Neurology Briefs |
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| Online Access: | https://www.pediatricneurologybriefs.com/articles/1515 |