Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene
- Resource Type
- Academic Journal
- Authors
- Merlini, L; Carbone, I; Capanni, C; Sabatelli, P; Tortorelli, S; Sotgia, F; Lisanti, M P; Bruno, C; Minetti, C
- Source
- Journal of Neurology, Neurosurgery, & Psychiatry. Jul 01, 2002 73(1):65-67
- Subject
- Language
- English
- ISSN
- 0022-3050
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.