小窝蛋白-3基因中的一种新错义突变导致波纹状肌肉疾病。

A new missense mutation in caveolin-3 gene causes rippling muscle disease.

作者信息

Dotti M Teresa, Malandrini Alessandro, Gambelli Simona, Salvadori Claudio, De Stefano Nicola, Federico Antonio

机构信息

Department of Neurological and Behavioral Sciences, University of Siena, Italy.

出版信息

J Neurol Sci. 2006 Apr 15;243(1-2):61-4. doi: 10.1016/j.jns.2005.11.032. Epub 2006 Feb 3.

DOI:10.1016/j.jns.2005.11.032

PMID:16458928

Abstract

Mutations of the Cav-3 gene are associated with distinct, sometimes overlapping muscle disease phenotypes. We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene.

摘要

Cav-3基因的突变与不同的、有时重叠的肌肉疾病表型相关。我们报告了一个患有常染色体显性遗传性波纹状肌肉病的意大利新家族。对肌肉进行的免疫细胞化学分析显示小窝蛋白-3蛋白缺乏，分子遗传学分析显示Cav-3基因有一个新的突变。