Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.
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.
Schara
U
U
Gencik
M
M
Mortier
J
J
Langen
M
M
Gencikova
A
A
Epplen
J T
JT
Mortier
W
W
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
D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans