Two novel mutations in the myophosphorylase gene in a patient with McArdle disease

被引：14

作者：

Deschauer, M ^{[1
]}

Hertel, K ^{[1
]}

Zierz, S ^{[1
]}

机构：

[1] Univ Halle Wittenberg, Dept Neurol, D-06097 Halle An Der Saale, Germany

来源：

MUSCLE & NERVE | 2003年 / 27卷 / 01期

关键词：

genetic heterogeneity; glycogenosis type V; McArdle disease; mutation; myopathy; myophosphorylase;

D O I：

10.1002/mus.10261

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We identified two novel mutations in exon 2 of the myophosphorylase gene in a 33-year-old German women with McArdle disease, The patient was compound heterozygous for a novel nonsense mutation at codon 84 changing tyrosine to stop codon (Y84X) and for a novel missense mutation at codon 93 changing arginine to tryptophan (R93W). These mutations are the first to be described in exon 2 and expand the genetic heterogeneity in patients with McArdle disease.

引用

页码：105 / 107

页数：3

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