Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.
Rippling muscle disease (RMD) is a rare muscle disorder characterised by muscle stiffness, exercise induced myalgia, and cramp-like sensations. It is genetically heterogeneous and can be acquired, but most cases show autosomal dominant inheritance due to mutations in the caveolin-3 (CAV3) gene. We report a novel heterozygous missense mutation in CAV3 in a Belgian family with autosomal dominant RMD. A 40 year old woman complained of fatigue, exercise induced muscle pain, and muscle cramps since the age of 35. Neurological examination revealed percussion induced rapid muscle contractions (PIRCs)... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2004 |
Schlagwörter: | Adult / Belgium / Caveolin 3 / Caveolins / Exercise / Female / Humans / Male / Middle Aged / Muscle Contraction / Muscle Cramp / Muscle Proteins / Muscular Diseases / Mutation / Missense / Pain / Pedigree |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26527171 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://hdl.handle.net/2078.1/9934 |