Associated Papers
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Nogales-Gadea G et al.
Human Mutation, 2015
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.
Deschauer M et al.
Journal of Neurology, 2007
Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.
Martín MA et al.
Annals of Human Genetics, 2004
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.
Bruno C et al.
Neuromuscular Disorders : Nmd, 2002
HyperCKemia as the only sign of McArdle's disease in a child.
Bruno C et al.
Journal of Child Neurology, 2000
McArdle's disease. The unsolved mystery of the reappearing enzyme.
Martinuzzi A et al.
The American Journal of Pathology, 1999
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).
Tsujino S et al.
Human Mutation, 1995
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