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.
Alcántara-Ortigoza, Miguel Angel
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
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