A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease

被引：16

作者：

Deschauer, M

Opalka, JR

Lindner, A

Zierz, S

机构：

[1] Univ Halle Wittenberg, Neurol Klin & Poliklin, D-06097 Halle An Der Saale, Germany

[2] Marienhosp Stuttgart, Dept Neurol, D-70199 Stuttgart, Germany

来源：

MOLECULAR GENETICS AND METABOLISM | 2001年 / 74卷 / 04期

关键词：

McArdle disease; myophosphorylase; nonsense mutation;

D O I：

10.1006/mgme.2001.3252

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We identified a novel nonsense mutation in the myophoshorylase gene in a patient of Italian origin with McArdle disease. This homozygous C-to-T transition (805C > T) results in the replacement of a arginine at amino acid position 269 with a stop codon (R269X). Our data further expand the genetic heterogeneity in patients with McArdle disease. (C) 2001 Elsevier Science.

引用

收藏

页码：489 / 491

页数：3

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