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.
| 發表在: | Pediatric Neurology Briefs |
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| 格式: | Article |
| 語言: | 英语 |
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Pediatric Neurology Briefs Publishers
2003-05-01
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| 在線閱讀: | https://www.pediatricneurologybriefs.com/articles/1515 |
| 總結: | 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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| ISSN: | 1043-3155 2166-6482 |