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 α-glucosidase gene

Journal of Child Neurology

Volumn 25, Issue 8, 2010, Pages 1034-1037

  Alcántara Ortigoza, Miguel Angel ^a   González Del Angel, Ariadna ^a   Barrientos Ríos, Rehotbevely ^a   Cupples, Courtney ^b   Garrido García, Luis Martín ^a   De León Bojorge, Beatríz ^a   Alva Chaire, Adriana Del Carmen ^a  

^a INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^b Genzyme México S de R L de C v ^*  (Mexico)

Author keywords

glycogen storage disease type II; lysosomal storage disease; muscular dystrophies; mutational analysis; Pompe disease

Indexed keywords

CREATINE KINASE; DYSTROPHIN; GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADOLESCENT; ARTICLE; BECKER MUSCULAR DYSTROPHY; BLOOD SAMPLING; CLINICAL ARTICLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; ELECTROMYOGRAPHY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 2; HETEROZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MEXICO; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOPATHY; PRIORITY JOURNAL; SAMPLING; SPLICING DEFECT;

ADOLESCENT; AGE OF ONSET; ALPHA-GLUCOSIDASES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE; MEXICO; MUSCULAR DISEASES; MUTATION;

EID: 77954726272     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809356035     Document Type: Article

References (8)

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