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References

These sources were used to develop the Genetics Home Reference gene summary on the PYGM gene.

Aquaron R, Bergé-Lefranc JL, Pellissier JF, Montfort MF, Mayan M, Figarella-Branger D, Coquet M, Serratrice G, Pouget J. Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation. Neuromuscul Disord. 2007 Mar;17(3):235-41. Epub 2007 Feb 26. PubMed citation
Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C. McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum Mutat. 2006 Jul;27(7):718. PubMed citation
Deschauer M, Morgenroth A, Joshi PR, Gläser D, Chinnery PF, Aasly J, Schreiber H, Knape M, Zierz S, Vorgerd M. Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. J Neurol. 2007 Jun;254(6):797-802. Epub 2007 Apr 3. PubMed citation
Entrez Gene
Nogales-Gadea G, Arenas J, Andreu AL. Molecular genetics of McArdle's disease. Curr Neurol Neurosci Rep. 2007 Jan;7(1):84-92. Review. PubMed citation
Nogales-Gadea G, Rubio JC, Fernandez-Cadenas I, Garcia-Consuegra I, Lucia A, Cabello A, Garcia-Arumi E, Arenas J, Andreu AL, Martín MA. Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. Hum Mutat. 2008 Feb;29(2):277-83. PubMed citation
OMIM: GLYCOGEN PHOSPHORYLASE, MUSCLE

Reviewed: July 2010

Published: May 20, 2013