Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations-Reference-Cited by-同舟云学术

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Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations

Published:2011-12 Issue:12 Volume:21 Page:817-823
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Vieitez Irene,Teijeira Susana,Fernandez Jose M.,San Millan Beatriz,Miranda Sara,Ortolano Saida,Louis Sarah,Laforet Pascal,Navarro Carmen

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference34 articles.

1. Myopathy due to a defect in muscle glycogen breakdown;McArdle;Clin Sci,1951

2. A functional disorder of muscle associated with the absence of phosphorylase;Mommaerts;Proc Natl Acad Sci,1959

3. Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle;Schmid;J Clin Invest,1959

4. Spontaneous “second wind” and glucose-induced second “second wind” in McArdle disease: oxidative mechanisms;Haller;Arch Neurol,2002

5. Fatal infantile form of muscle phosphorylase deficiency;DiMauro;Neurology,1978

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

2. Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V;Pediatric Research;2023-12-05

3. Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales;JIMD Reports;2023-08-09

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