Abstract
We present the first Turkish family with delta-sarcoglycanopathy (LGMD2F). A novel truncating mutation (E93X) in exon 3 was identified in the gene. The index case showed a severe course and there was no cardiac involvement. LGMD2F seems to be rare in our population.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Cardiomyopathies / genetics
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Cardiomyopathies / pathology
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Codon, Nonsense / genetics
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Consanguinity
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Cytoskeletal Proteins / genetics*
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DNA Mutational Analysis
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Exons / genetics*
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Female
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Genotype
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Homozygote
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Humans
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Membrane Glycoproteins / genetics*
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Muscular Dystrophies / genetics*
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Muscular Dystrophies / pathology*
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Mutation / genetics
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Sarcoglycans
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Turkey
Substances
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Codon, Nonsense
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Cytoskeletal Proteins
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Membrane Glycoproteins
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Sarcoglycans