McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene-Reference-Cited by-同舟云学术

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McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene

Published:2015-06-03 Issue:7 Volume:36 Page:669-678
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Nogales-Gadea Gisela¹,Brull Astrid²³,Santalla Alfredo⁴⁵,Andreu Antoni L.²³,Arenas Joaquin⁵⁶,Martín Miguel A.³⁵⁶,Lucia Alejandro⁶⁷,de Luna Noemi²³,Pinós Tomàs²³

Affiliation:

1. 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

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

3. Centre for Biomedical Network Research on Rare Diseases (CIBERER); Instituto de Salud Carlos III; Madrid Spain

4. Universidad Pablo de Olavide; Sevilla Spain

5. Laboratorio de Enfermedades Mitocondriales y Neuromusculares; Hospital 12 de Octubre; Madrid Spain

6. Instituto de Investigación Hospital 12 de Octubre (i+12); Madrid Spain

7. Universidad Europea; Madrid Spain

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22806/fullpdf

Reference116 articles.

1. Do carriers of PYGM mutations have symptoms of McArdle disease?;Andersen;Neurology,2006

2. Effect of oral sucrose shortly before exercise on work capacity in McArdle disease;Andersen;Arch Neurol,2008

3. Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity;Andersen;J Neurol Neurosurg Psychiatry,2008

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

5. Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations;Aquaron;Neuromuscul Disord,2007

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1. An autosomal recessive variant in PYGM causes myophosphorylase deficiency in Red Angus composite cattle;BMC Genomics;2024-04-27

2. Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates;Pediatric Research;2024-03-21

3. Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease;Clinical Nutrition;2024-03

4. Novel Pathogenic Mutation of P209L in TRPC6 Gene Causes Adult Focal Segmental Glomerulosclerosis;Biochemical Genetics;2024-02-05

5. Dose–response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease;Journal of Sport and Health Science;2023-11

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