title: A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene.
abstract: A unique sib pair afflicted by limb girdle muscular dystrophy type 2A (LGMD2A) is described showing a slowly progressive autosomal recessive type of muscular dystrophy with onset in the third and fourth decades. The patients had early asymmetric muscle involvement characterized by prominent biceps brachii atrophy with sparing of the knee extensors. Additional findings included elevation of serum creatine kinase level, myopathic EMG changes and dystrophic type of pathology on muscle biopsy. Asymmetrical wasting of muscles in the extremities exhibited uniform and highly selective CT imaging patterns. RNA and DNA analyses confirmed novel compound heterozygous mutations (R147X/L212F) in the human CAPN3 gene.
authors.affiliation: Department of Neurology, Okayama University, Okayama, Japan. etsuro@nils.go.jp
authors.forename: E
authors.initials: E
authors.lastname: Matsubara
authors.forename: A
authors.initials: A
authors.lastname: Tsuchiya
authors.forename: N
authors.initials: N
authors.lastname: Minami
authors.forename: I
authors.initials: I
authors.lastname: Nishino
authors.forename: M A
authors.initials: MA
authors.lastname: Pappolla
authors.forename: M
authors.initials: M
authors.lastname: Shoji
authors.forename: K
authors.initials: K
authors.lastname: Abe
mesh_terms: D000328:Adult; D001706:Biopsy; D002154:Calpain / Q000235:genetics*; D020134:Catalytic Domain / Q000235:genetics; D018450:Disease Progression; D004576:Electromyography; D005260:Female; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed; D014744:Vietnam / Q000208:ethnology
chemical_list: D009124:Muscle Proteins; D012333:RNA, Messenger; C105884:CAPN3 protein, human; D002154:Calpain