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 r...

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Veröffentlicht in:Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2004-09, Vol.75 (9), p.1349-1351
Hauptverfasser: Van den Bergh, P Y K, Gérard, J M, Elosegi, J A, Manto, M U, Kubisch, C, Schoser, B G H
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Sprache:eng
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