A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia

被引：15

作者：

Alias, L

Gallano, P

Moreno, D

Pujol, R

Martínez-Matos, JA

Baiget, M

Ferrer, I

Olivé, M

机构：

[1] Hosp Univ Bellvitge, Inst Neuropatol, Barcelona 08907, Spain

[2] Hosp Santa Creu & Sant Pau, Serv Genet, E-08025 Barcelona, Spain

[3] Hosp Univ Bellvitge, Med Interna Serv, Barcelona 08907, Spain

[4] Hosp Univ Bellvitge, Serv Neurol, Barcelona 08907, Spain

来源：

NEUROMUSCULAR DISORDERS | 2004年 / 14卷 / 05期

关键词：

caveolin-3; HyperCKaemia; mutation;

D O I：

10.1016/j.nmd.2004.01.006

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Three members of a family were known to have persistent elevated serum CK levels without muscle weakness. A muscle biopsy showed a partial reduction of caveolin-3 at the sarcolemma of muscle fibres, which was confirmed by Western blot analysis. Mutational analysis identified a novel heterozygous mutation: G --> A transition at nucleotide position 169 in exon 2 in the CAV-3 gene, generating a Val --> Met change at codon 57 of the aminoacid chain. This is the second mutation in the CAV-3 gene associated with familial isolated hyperCKaemia. (C) 2004 Elsevier B.V. All rights reserved.

引用

页码：321 / 324

页数：4

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