Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene. [electronic resource]
- Journal of child neurology Aug 2010
- 1034-7 p. digital
Publication Type: Case Reports; Journal Article
1708-8283
10.1177/0883073809356035 doi
Adolescent Age of Onset Female Genetic Predisposition to Disease--genetics Genetic Testing--methods Genotype Glycogen Storage Disease Type II--enzymology Humans Male Mexico--ethnology Muscular Diseases--enzymology Mutation--genetics White People--ethnology alpha-Glucosidases--genetics