Minimal symptoms in McArdle disease: A real PYGM genotype effect?-Reference-Cited by-同舟云学术

Minimal symptoms in McArdle disease: A real PYGM genotype effect?

Published:2015-09-24 Issue:6 Volume:52 Page:1136-1137
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Pinós Tomàs¹²,Lucia Alejandro³⁴,Arenas Joaquin²⁴,Brull Astrid¹²,Andreu Antoni L.⁵,Martin Miguel Angel²⁴,Nogales-Gadea Gisela⁶

Affiliation:

1. Departament de Patologia Mitocondrial i Neuromuscular; Hospital Universitari Vall d'Hebron, Institut de Recerca, Universitat Autónoma de Barcelona; Barcelona Spain

2. Centre for Biomedical Network Research on Rare Diseases; Instituto de Salud Carlos III; Madrid Spain

3. Universidad Europea; Madrid Spain

4. Instituto de Investigación Hospital 12 de Octubre; Madrid Spain

5. Hospital Universitari de Bellvitge; Hospitalet del Llobregat Spain

6. Department of Neurosciences; Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol I Campus Can Ruti, Universitat Autònoma de Barcelona; Badalona Spain

Publisher

Wiley

Subject

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.24789/fullpdf

Reference11 articles.

1. Minimally symptomatic McArdle disease, expanding the genotype-phenotype spectrum;Petrou;Muscle Nerve

2. McArdle disease: update of reported mutations and polymorphisms in the PYGM gene;Nogales-Gadea;Hum Mutat,2015

3. Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data;Castro;Genet Med

4. Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease;Nogales-Gadea;Genet Med,2015

5. Phenotype modulators in myophosphorylase deficiency;Martinuzzi;Ann Neurol,2003

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