title: [A case of LGMD2A identified with both western blot analysis and immunostaining of calpain 3 in biopsied muscle].
abstract: A 45-year-old housewife had proximal dominant limb muscle weakness from around 25 years of age. Her parents were cousins. None of family members was affected. Progressive muscle weakness and atrophy were prominent at the posterior compartments of legs and trunk. Serum CK was moderately elevated. Muscle pathology revealed variation in fiber size, moderate increase in numbers of internal nuclei and abundant lobulated fibers. On immunostaining using by monoclonal antibody against human calpain 3 (NCL-CALP-2 C4; Novocastra) to the biopsied muscle, calpain 3 was completely absent in the sarcoplasm, while granular debris and in part positive striation were noted in control muscle. By Western blot analysis, a band corresponding to 94 kDa of calpain 3 was not detected. A genetic analysis of calpain 3 revealed homozygous C-565-G mutation (Leu189Val). From the present study. Western blot analysis and immunostaining by using calpain 3 antibody were suggested to be useful to diagnose LGMD2A in LGMD patients.
authors: Neurology Section, Department of Medicine IV, Aichi Medical University, Aichi.
authors: T
authors: T
authors: Ibi
authors: L
authors: L
authors: Jing
authors: N
authors: N
authors: Nakao
authors: N
authors: N
authors: Minami
authors: K
authors: K
authors: Sahashi
mesh_terms: D015415:Biomarkers / Q000032:analysis; D015153:Blotting, Western; D002154:Calpain / Q000032:analysis* / Q000172:deficiency / Q000235:genetics; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007527:Isoenzymes; D008875:Middle Aged; D009124:Muscle Proteins; D018482:Muscle, Skeletal / Q000737:chemistry* / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000473:pathology; D009154:Mutation
chemical_list: D015415:Biomarkers; D007527:Isoenzymes; D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain