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

L. Merlini, I. Carbone, C. Capanni, P. Sabatelli, S. Tortorelli, F. Sotgia, M. P. Lisanti, C. Bruno, C. Minetti

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)65-67
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Issue number1
Publication statusPublished - 2002

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health

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