Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins-Reference-Cited by-同舟云学术

Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

Published:2018-06-20 Issue:6 Volume:41 Page:1027-1035
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Núñez-Manchón Judit¹,Ballester-Lopez Alfonsina¹²,Koehorst Emma¹,Linares-Pardo Ian¹,Coenen Daniëlle³,Ara Ignacio⁴⁵,Rodriguez-Lopez Carlos⁴⁵,Ramos-Fransi Alba¹⁶,Martínez-Piñeiro Alicia¹⁶,Lucente Giuseppe¹⁶,Almendrote Miriam¹⁶,Coll-Cantí Jaume¹²⁶,Pintos-Morell Guillem¹²⁷,Santos-Lozano Alejandro⁸⁹,Arenas Joaquin²⁸,Martín Miguel Angel²⁸,de Castro Mauricio¹⁰,Lucia Alejandro⁵⁸¹¹,Santalla Alfredo⁵⁸¹²,Nogales-Gadea Gisela¹²^ORCID

Affiliation:

1. ; Grup de Recerca en Malalties Neuromusculars i Neuropediatriques; Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona; Badalona Barcelona Spain

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

3. ; Department of Biochemistry, Cardiovascular Research Institute Maastricht (CARIM); Maastricht University; Maastricht the Netherlands

4. ; GENUD Toledo Research Group; Universidad de Castilla-La Mancha; Madrid Spain

5. CIBER of Frailty and Healthy Aging (CIBER FES); Madrid Spain

6. ; Neuromuscular Pathology Unit, Neurology Service, Neuroscience Department; Hospital Universitari Germans Trias i Pujol; Badalona Barcelona Spain

7. ; Division of Rare Diseases; Vall d'Hebron University Hospital; Barcelona Spain

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

9. ; i+HeALTH, European University Miguel de Cervantes; Valladolid Spain

10. United States Air Force Medical Genetics Center; 81st Medical Group, Keesler AFB; Biloxi MS 39534 USA

11. ; Universidad Europea de Madrid (Faculty of Sport Sciences); Madrid Spain

12. ; Universidad Pablo de Olavide; Sevilla Spain

Funder

Fondo de Investigaciones Sanitarias and FEDER funds from the European Union

AFM Telethon Trampoline

Biomedical Research Networking Center on Frailty and Healthy Aging

FI Agaur

Instituto de Salud Carlos III

AFM-Téléthon

Secretaría de Estado de Investigación, Desarrollo e Innovación

Agència de Gestió d’Ajuts Universitaris i de Recerca

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-018-0203-2/fulltext.html

Reference28 articles.

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

2. Lactate production in McArdle's disease;Baksi;Postgrad Med J,1977

3. The Wingate anaerobic test an update on methodology, reliability and validity;Bar-Or;Sport Med An Int J Appl Med Sci Sport Exerc,1987

4. How anaerobic is the Wingate anaerobic test for humans?;Beneke;Eur J Appl Physiol,2002

5. Dominant inheritance of McArdle syndrome;Chui;Arch Neurol,1976

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5. Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins;Journal of Inherited Metabolic Disease;2018-07-20