title: Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.
abstract: We report a Spanish family with muscle glycogen phosphorylase (PYGM) deficiency (McArdle's disease) harbouring a novel compound genotype (A659D/L586P). Four individuals who had the same genotype for PYGM, showed a wide variability in the presentation of the clinical phenotype, including one patient with a restrictive respiratory pattern, which is unusual in McArdle's disease. Moreover, these patients were studied for the insertion/deletion (I/D) trait in the angiotensin converting enzyme (ACE) which has been suggested to be a strong modulator of severity in McArdle's disease. Our results indicate no association of the I/D ACE trait in this family, suggesting that other factors would be more relevant in determining the severity of the clinical presentation.
authors.affiliation: Unidad de Neurología, Hospital de Zafra, Badajoz, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Paradas
authors.forename: I
authors.initials: I
authors.lastname: Fernandez-Cadenas
authors.forename: E
authors.initials: E
authors.lastname: Gallardo
authors.forename: D
authors.initials: D
authors.lastname: Lligé
authors.forename: J
authors.initials: J
authors.lastname: Arenas
authors.forename: I
authors.initials: I
authors.lastname: Illa
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
mesh_terms: D000368:Aged; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism*; D009135:Muscular Diseases / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism*; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D013030:Spain / Q000453:epidemiology
chemical_list: D024982:Glycogen Phosphorylase, Muscle Form