title: Myophosphorylase deficiency and limb-girdle muscular dystrophy in the same pedigree.
abstract: We report 2 familial patients with limb-girdle muscular dystrophy (LGD). The parents of patient 1 showed a consanguineous marriage and patient 2 was a paternal cousin of patient 1. Slowly progressive muscular weakness/wasting and dystrophic changes in the biopsied muscles were observed in both patients. However, a quantitative assay revealed a severely reduced myophosphorylase activity in patient 1 with normal activity in patient 2. A semi-ischemic exercise test disclosed no elevation of venous lactate in patient 1 with a normal increase in patient 2. A leukocytes DNA analysis in patient 1 did not show the gene deficits previously recognized in patients with McArdle's disease (McD). Patient 1 may only have abnormal myophosphorylase activity with dystrophic changes secondary to the myophosphorylase deficiency or coincidentally two genomic abnormalities for McD and LGD. LGD still has heterogenous etiologies and the responsible genes for these two disorders may be closely mapped.
authors.affiliation: Department of Neurology, Musashi Hospital, Kodaira, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Nishio
authors.forename: N
authors.initials: N
authors.lastname: Sunohara
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: H
authors.initials: H
authors.lastname: Sugie
mesh_terms: D000328:Adult; D005080:Exercise Test; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D006005:Phosphorylases / Q000172:deficiency* / Q000378:metabolism
chemical_list: D019344:Lactic Acid; D006005:Phosphorylases