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.
MeSH terms
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Adolescent
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Blotting, Western
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Cytoskeletal Proteins / genetics*
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Cytoskeletal Proteins / metabolism*
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Diagnosis, Differential
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Follow-Up Studies
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Glycogen Storage Disease Type VII / diagnosis*
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Glycogen Storage Disease Type VII / genetics*
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Glycogen Storage Disease Type VII / rehabilitation
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Humans
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Immunohistochemistry
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Male
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Membrane Glycoproteins / genetics*
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Membrane Glycoproteins / metabolism*
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Muscular Dystrophy, Duchenne / diagnosis*
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Muscular Dystrophy, Duchenne / genetics*
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Muscular Dystrophy, Duchenne / rehabilitation
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Mutation*
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Sarcoglycans
Substances
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Cytoskeletal Proteins
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Membrane Glycoproteins
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Sarcoglycans