A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F


Dincer P. R., Bonnemann C., Aker O., Akcoren Z., Nigro V., Kunkel L., ...More

NEUROMUSCULAR DISORDERS, vol.10, pp.247-250, 2000 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 10
  • Publication Date: 2000
  • Doi Number: 10.1016/s0960-8966(00)00100-0
  • Journal Name: NEUROMUSCULAR DISORDERS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.247-250
  • Hacettepe University Affiliated: Yes

Abstract

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.