Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease-Reference-Cited by-同舟云学术

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Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease

Published:2003-05-30 Issue:3 Volume:28 Page:380-382
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Gámez Josep,Rubio Juan C.,Martín Miguel A.,Fernández-Cadenas Israel,Garcia-Arumi Elena,Andreu Antoni L.,Arenas Joaquín

Funder

Programa Nacional de Biomedicina

Fondo de Investigación Sanitaria (FIS)

Ministerio de Sanidad, Spain

FIS

Sigma-Tau

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Reference19 articles.

1. A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease;Andreu;Neuromuscul Disord,1999

2. Myophosphorylase deficiency (glycogenosis type V; McArdle's disease);DiMauro;Curr Mol Med,2002

3. A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle's disease;Fernandez;Arch Neurol,2000

4. A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact;Gamez;Muscle Nerve,1999

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease;Acta Neurologica Belgica;2018-11-10

2. McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene;Human Mutation;2015-06-03

3. Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations;Neuromuscular Disorders;2011-12

4. Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern;Molecular Genetics and Metabolism;2011-12

5. Molecular genetics of McArdle’s disease;Current Neurology and Neuroscience Reports;2007-01

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