NEUROMUSCULAR DISORDERS, cilt.10, ss.247-250, 2000 (SCI-Expanded)
We present the first Turkish family with 6-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. (C) 2000 Elsevier Science B.V. All rights reserved.