title: McArdle's disease: two clinical expressions in the same pedigree.
abstract: Two patients with McArdle's disease within the same pedigree and with two different clinical forms are presented. The first patient suffered from progressive muscle weakness and atrophy. Muscle morphology was that of myopathy. Residual activity of phosphorylase was 28% and sodium dodecyl sulphate electrophoresis showed decreased protein. The second case was typical of McArdle's disease, clinically and biochemically. It was concluded that the first patient was a heterozygote (residual activity 28% of normal) and the second was a homozygote, the genetic transmission being autosomal recessive.
authors.affiliation: Department of Neurology, Red Cross Hospital, Athens, Greece.
authors.forename: A
authors.initials: A
authors.lastname: Papadimitriou
authors.forename: P
authors.initials: P
authors.lastname: Manta
authors.forename: R
authors.initials: R
authors.lastname: Divari
authors.forename: A
authors.initials: A
authors.lastname: Karabetsos
authors.forename: E
authors.initials: E
authors.lastname: Papadimitriou
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
mesh_terms: D000328:Adult; D001284:Atrophy; D004586:Electrophoresis; D005221:Fatigue / Q000209:etiology; D006012:Glycogen Storage Disease Type V / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009120:Muscle Cramp / Q000209:etiology; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009135:Muscular Diseases / Q000209:etiology; D009212:Myoglobinuria / Q000209:etiology; D010375:Pedigree; D006005:Phosphorylases / Q000378:metabolism
chemical_list: D006005:Phosphorylases