Molecular genetic analysis of McArdle's disease in Spanish patients

被引：25

作者：

Andreu, AL

Bruno, C

Gamez, J

Shanske, S

Cervera, C

Navarro, C

Arbos, MA

Tamburino, L

Schwartz, S

DiMauro, S

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

[2] Hosp Gen Valle Hebron, Ctr Invest Bioquim & Biol Mol, Barcelona, Spain

[3] Hosp Gen Valle Hebron, Serv Neurol, Barcelona, Spain

[4] Hosp Meixoeiro, Serv Pat, Vigo, Spain

来源：

NEUROLOGY | 1998年 / 51卷 / 01期

关键词：

D O I：

10.1212/WNL.51.1.260

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We analyzed leukocyte DNA of 19 patients from 12 Spanish families with McArdle's disease (myophosphorylase deficiency). In 15 patients, the enzyme defect was documented histochemically in muscle, and in four the diagnosis was based on clinical and laboratory data. Three patients were homozygous and six were heterozygous for the nonsense mutation at codon 49 (R49X). Our findings indicate that the R49X mutation, which is common in English and American patients, is also present in Spanish patients with McArdle's disease, but at a lower frequency.

引用

页码：260 / 262

页数：3

共 8 条

[1] MCARDLES-DISEASE - A NONSENSE MUTATION IN EXON-1 OF THE MUSCLE GLYCOGEN-PHOSPHORYLASE GENE EXPLAINS SOME BUT NOT ALL CASES [J].