Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene

Neuroscience Letters

Volumn 391, Issue 1-2, 2005, Pages 28-31

  Paradas, C ^a   Fernandez Cadenas, I ^b   Gallardo, E ^c   Llige D ^d   Arenas, J ^e   Illa, I ^c   Andreu, A L ^d  

^a Hospital de Zafra   (Spain)

^b UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^c Laboratori de Neurologia Experimental   (Spain)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^e HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

ACE genotype; McArdle's disease; Metabolic myopathy; Muscle glycogen phosphorylase deficiency; Mutation; Phenotype modulators

Indexed keywords

DIPEPTIDYL CARBOXYPEPTIDASE; GLYCOGEN PHOSPHORYLASE;

ADULT; AGED; ARTICLE; BREATHING DISORDER; BREATHING PATTERN; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE INSERTION; GENETIC ASSOCIATION; GENETIC TRAIT; GENETIC VARIABILITY; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; SIBLING; SPAIN;

AGED; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MALE; MIDDLE AGED; MUSCLES; MUSCULAR DISEASES; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; RISK ASSESSMENT; RISK FACTORS; SPAIN; VARIATION (GENETICS);

EID: 27844542729     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2005.08.026     Document Type: Article

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