一个患有麦克劳德综合征和钙蛋白酶病且伴有临床重叠疾病的家族。

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.

作者信息

Starling A, Schlesinger D, Kok F, Passos-Bueno M Rita, Vainzof M, Zatz M

机构信息

Human Genome Research Center, University of São Paulo Medical School, São Paulo, Brazil.

出版信息

Neurology. 2005 Dec 13;65(11):1832-3. doi: 10.1212/01.wnl.0000187073.58307.41.

DOI:10.1212/01.wnl.0000187073.58307.41

PMID:16344536

Abstract

The authors describe a family with six patients with muscular dystrophy with a variable course. One is a compound heterozygote for CAPN3 mutations (calpainopathy) and the others have a single CAPN3 mutation. Linkage analysis and sequencing revealed a XK gene mutation (McLeod syndrome). This illustrates the variable phenotype of XK mutations and suggests the possibility that CAPN3 heterozygotes may have their condition caused by nonallelic mutations in other unrelated genes.

摘要

作者描述了一个有六名肌营养不良患者的家庭，其病程各异。其中一名是CAPN3突变的复合杂合子（钙蛋白酶病），其他患者有单个CAPN3突变。连锁分析和测序揭示了一个XK基因突变（麦克劳德综合征）。这说明了XK突变的可变表型，并提示CAPN3杂合子的病情可能由其他不相关基因的非等位基因突变引起。