Article
Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care.
European journal of pediatrics - 1 Jul 2001
Schara U, Gencik M, Mortier J, Langen M, Gencikova A, Epplen J T, Mortier W
Abstract excerpt
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...
Topics
- Adolescent
- Blotting, Western
- Cytoskeletal Proteins
- Diagnosis, Differential
- Follow-Up Studies
- Glycogen Storage Disease Type VII
- Humans
- Immunohistochemistry
- Male
- Membrane Glycoproteins
- Muscular Dystrophy, Duchenne
- Mutation
- Sarcoglycans