Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. Issue 1 (1st July 2002)

• Record Type: Journal Article
• Authors: Merlini, L; Carbone, I; Capanni, C; Sabatelli, P; Tortorelli, S; Sotgia, F; Lisanti, M P; Bruno, C; Minetti, C
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 73:Issue 1(2002)
• Page Start: 65
• Page End: 67
• Publication Date: 2002-07-01
• Subjects: hyperCKaemia -- caveolin-3 -- CAV-3 gene; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.73.1.65
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : 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.