title: [Clinical-genetic analysis of limb-girdle muscular dystrophy 2 type I].
abstract: Seventy four patients with clinical presentation of LGMD and probably autosomal-recessive type of inheritance were examined. Five different mutations of FKRP gene responsible for LGMD2 type I were detected in eight (10.8%) patients. Two of them с.341C>G, c.826C>A were described before and three c.229C>T, с.265C>T, с.1078G>C were found for the first time. The significant clinical polymorphism due to the difference in age of manifestation and severity of clinical presentation was identified.
authors.forename: O P
authors.initials: OP
authors.lastname: Ryzhkova
authors.forename: I V
authors.initials: IV
authors.lastname: Sharkova
authors.forename: E L
authors.initials: EL
authors.lastname: Dadali
authors.forename: E L
authors.initials: EL
authors.lastname: Petrunina
authors.forename: A V
authors.initials: AV
authors.lastname: Poliakov
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010430:Pentosyltransferases; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases