title: Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.
abstract: Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM) are autosomal recessive disorders caused by mutations in the dysferlin gene on chromosome 2p13. The authors studied a large Russian family with both LGMD2B and MM. All affected individuals, as well as one preclinical boy with dystrophic changes on muscle biopsy, were found to be homozygous for a novel dysferlin mutation, TG573/574AT (Val67Asp). This finding supports the view that additional factors (e.g., modifier genes) contribute to the phenotypic expression of causative mutations in dysferlinopathies.
authors.affiliation: Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Moscow, Russia. neurogen@online.ru
authors.forename: S N
authors.initials: SN
authors.lastname: Illarioshkin
authors.forename: I A
authors.initials: IA
authors.lastname: Ivanova-Smolenskaya
authors.forename: C R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: E
authors.initials: E
authors.lastname: Nylen
authors.forename: V S
authors.initials: VS
authors.lastname: Sukhorukov
authors.forename: V V
authors.initials: VV
authors.lastname: Poleshchuk
authors.forename: E D
authors.initials: ED
authors.lastname: Markova
authors.forename: K
authors.initials: K
authors.lastname: Wrogemann
mesh_terms: D000328:Adult; D002648:Child; D000073939:Dysferlin; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009124:Muscle Proteins / Q000235:genetics*; D009132:Muscles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins