Article
Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.
Neuromuscular disorders : NMD - 1 Dec 2011
Vieitez Irene, Teijeira Susana, Fernandez Jose M, San Millan Beatriz, Miranda Sara, Ortolano Saida, Louis Sarah, Laforet Pascal, Navarro Carmen
Abstract excerpt
McArdle's disease is the most common muscle glycogenosis. It is caused by the deficiency of myophosphorylase, encoded by the PYGM gene. We studied 123 patients previously diagnosed with McArdle's disease and we identified 20 novel mutations (10 missense and 3 nonsense mutations, 3 small deletions, 2 gross deletions and 2 small insertions). Most patients of this cohort belong to Spanish and French populations....
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