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J Neurol Neurosurg Psychiatry. 2002 Jul;73(1):65-7.

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.

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  • 1Neuromuscular Disease Unit, Istituto Ortopedico Rizzoli, Bologna, Italy.

Erratum in

  • J Neurol Neurosurg Psychiatry 2003 Jan;74(1):142.


An 18 year old man and his mother both presented with persistent, isolated raised serum creatine kinase (hyperCKaemia) without muscle symptoms. Analysis of caveolin-3 protein expression in muscle biopsy of the propositus showed a reduction in the protein. Genetic analysis revealed a new heterozygous mutation in the caveolin-3 (CAV-3) gene: a C-->T transition at nucleotide position 83 in exon 1 leading to a substitution of a proline for a leucine at amino acid position 28 (P28L). This is the first pathogenic mutation in the CAV-3 gene associated with isolated familial hyperCKaemia. It expands the genetic heterogeneity in patients with caveolin-3 deficiency and confirms that caveolin-3 deficiency should be considered in the differential diagnosis of isolated hyperCKaemia.

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