TITLE

Novel missense mutation in the caveolin-3 gene in a Belgian Family with rippling muscle disease

AUTHOR(S)
van den Bergh, P Y K; Gérard, J M; Elosegi, J A; Manto, M U; Kubisch, C; Schoser, B G H
PUB. DATE
September 2004
SOURCE
Journal of Neurology, Neurosurgery & Psychiatry;Sep2004, Vol. 75 Issue 9, p1349
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Rippling muscle disease (RMD) is a rare muscle disorder characterized 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) and localized muscle mounding on percussion; muscle rippling was not observed. Creatine kinase (CK) was elevated but electromyography and nerve conduction studies were normal. Fluorescence immuno- histochemistry revealed reduced caveolin-3 and dysferlin staining in a quadriceps muscle biopsy. Western blot analysis confirmed severely reduced caveolin-3 levels, whereas dysferlin was normal. Sequence analysis of the two coding exons of CAV3 revealed a hitherto unreported heterozygous C82A transversion in the first exon, predicting a Pro28Thr amino acid exchange. The patient's first degree relatives did not present with neuromuscular complaints, but PIRCs, muscle mounding, and muscle rippling were found in the mother, who also carried the CAV3 mutation.
ACCESSION #
14433354

 

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