title: Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.
abstract: Differential diagnosis of limb-girdle muscular dystrophy, including alpha-sarcoglycanopathy and Duchenne muscular dystrophy, is impossible to acheive on clinical grounds alone; therefore immunohistology, Western blotting and molecular genetic analysis are manadatory for a correct diagnosis. The patient's genotype with a hitherto unknown mutation (Tyr134STOP) in exon 5 adds to the growing spectrum of mutations in the alpha-sarcoglycan gene.
authors.forename: U
authors.initials: U
authors.lastname: Schara
authors.forename: M
authors.initials: M
authors.lastname: Gencik
authors.forename: J
authors.initials: J
authors.lastname: Mortier
authors.forename: M
authors.initials: M
authors.lastname: Langen
authors.forename: A
authors.initials: A
authors.lastname: Gencikova
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
authors.forename: W
authors.initials: W
authors.lastname: Mortier
mesh_terms: D000293:Adolescent; D015153:Blotting, Western; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism*; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006014:Glycogen Storage Disease Type VII / Q000175:diagnosis* / Q000235:genetics* / Q000534:rehabilitation; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism*; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics* / Q000534:rehabilitation; D009154:Mutation; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans