Associated Papers
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Nogales-Gadea G et al.
Human Mutation, 2015
Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.
Martín MA et al.
Annals of Human Genetics, 2004
Metabolic and drug-induced muscle disorders.
Scarlato G et al.
Current Opinion in Neurology, 2002
A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease.
Hadjigeorgiou GM et al.
Journal of the Neurological Sciences, 2002
[Neurological, dermatological and biological manifestations of porphyria variegata. A study of 3 families of Italian origin in Marseilles area].
Aquaron R et al.
Revue Neurologique, 1992
[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent].
Fernandez-Cadenas I et al.
Revista De Neurologia, 0
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