title: Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy.
abstract: We studied a group of 14 patients from Northern Italy with myophosphorylase deficiency. The disease presented considerable clinical and biochemical heterogeneity, which was reflected at the molecular level. The clinical presentation was typical in 3 patients, mild in 7 (exercise intolerance), and severe in 4 (fixed weakness). Enzyme activity was undetectable in 10 patients, below 3% of control in 3, and 13% of control in one. Enzymatic protein was detectable immunologically only in 1 patient. Myophosphorylase mRNA was present in 8 patients, but in 7 of them it was reduced in amount. Two patients were homozygous for the common nonsense R49X mutation, 5 were heterozygous. Two missense mutations not previously observed were identified in this group of patients. The frequency of alleles with the R49X mutation was significantly lower in this group of patients than in previously reported series. Myophosphorylase deficiency is genetically heterogeneous even among patients living in a small region and with a common ethnic background.
authors.affiliation: Neuromuscular Center, University of Padua, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Martinuzzi
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: L
authors.initials: L
authors.lastname: Vergani
authors.forename: G
authors.initials: G
authors.lastname: Schievano
authors.forename: M
authors.initials: M
authors.lastname: Cadaldini
authors.forename: L
authors.initials: L
authors.lastname: Bartoloni
authors.forename: M
authors.initials: M
authors.lastname: Fanin
authors.forename: G
authors.initials: G
authors.lastname: Siciliano
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: C
authors.initials: C
authors.lastname: Angelini
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001706:Biopsy; D015152:Blotting, Northern; D002648:Child; D005260:Female; D006003:Glycogen / Q000032:analysis; D006012:Glycogen Storage Disease Type V / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D007150:Immunohistochemistry; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000737:chemistry / Q000201:enzymology / Q000473:pathology; D009154:Mutation / Q000502:physiology; D006005:Phosphorylases / Q000172:deficiency* / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D012333:RNA, Messenger; D006003:Glycogen; D006005:Phosphorylases