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 journalArticle

47 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)65-67
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume73
Issue number1
DOIs
Publication statusPublished - 2002

Fingerprint

Caveolin 3
Mutation
Genes
Caveolins
Muscles
Genetic Heterogeneity
Creatine Kinase
Proline
Leucine
Exons
Differential Diagnosis
Nucleotides
Mothers
Biopsy
Amino Acids
Serum
Proteins

ASJC Scopus subject areas

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

Cite this

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. / Merlini, L.; Carbone, I.; Capanni, C.; Sabatelli, P.; Tortorelli, S.; Sotgia, F.; Lisanti, M. P.; Bruno, C.; Minetti, C.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 73, No. 1, 2002, p. 65-67.

Research output: Contribution to journalArticle

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AU - Sabatelli, P.

AU - Tortorelli, S.

AU - Sotgia, F.

AU - Lisanti, M. P.

AU - Bruno, C.

AU - Minetti, C.

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