Article
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.
Neuromuscular disorders : NMD - 1 Jun 2000
Dinçer P, Bönnemann C G, Erdir Aker O, Akçoren Z, Nigro V, Kunkel L M, Topalolu H
Abstract excerpt
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.
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