A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease

被引：14

作者：

Isackson, PJ

Tarnopolsky, M

Vladutiu, GD ^{[1
]}

机构：

[1] SUNY Buffalo, Sch Med & Biomed Sci, Dept Pediat, Buffalo, NY 14209 USA

[2] SUNY Buffalo, Sch Med & Biomed Sci, Dept Neurol, Buffalo, NY 14209 USA

[3] SUNY Buffalo, Sch Med & Biomed Sci, Dept Pathol, Buffalo, NY 14209 USA

[4] SUNY Buffalo, Sch Med & Biomed Sci, Dept Pediat, Div Genet, Buffalo, NY 14209 USA

[5] McMaster Univ, Dept Neurol, Hamilton, ON, Canada

来源：

MOLECULAR GENETICS AND METABOLISM | 2005年 / 85卷 / 03期

关键词：

exercise intolerance; McArdle disease; mutation; myophosphorylase; muscle disease; autosomal dominant;

D O I：

10.1016/j.ymgme.2005.03.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A Caucasian family appeared to transmit McArdle disease in an autosomal dominant manner and was examined for mutations in the myophosphorylase gene. The asymptomatic father was heterozygous for the R49X mutation in exon 1. The symptomatic mother was a compound heterozygote for R49X and a novel 2 bp deletion in exon I causing a frameshift at codon 25 (T25fs). Each of three children manifested symptoms of McArdle disease and was either a compound heterozygote for these two mutations or homozygous for R49X. (c) 2005 Elsevier Inc. All rights reserved.

引用

页码：239 / 242

页数：4

共 11 条

[1] INTRON EXON STRUCTURE OF THE HUMAN-GENE FOR THE MUSCLE ISOZYME OF GLYCOGEN-PHOSPHORYLASE [J].