Article
Clinical and molecular characterization of McArdle's disease in Brazilian patients.
Neuromolecular medicine - 1 Sept 2013
Gurgel-Giannetti Juliana, Nogales-Gadea Gisela, van der Linden Hélio, Bellard Túlio Marcus Ribeiro, Brasileiro Filho Geraldo, Giannetti Alexandre Varella, de Castro Concentino Eralda Luiza, Vainzof Mariz
Abstract excerpt
McArdle's disease, a glycogen storage disease type V, is caused by a deficiency of the enzyme myophosphorylase, encoded by the PYGM gene. Worldwide distribution of mutations has revealed interesting data about the prevalence of mutations and population migrations. Currently, more than 100 mutations in the PYGM gene have been described, with some recurrent mutations in the different populations. However, no...
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