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

Authors
Dincer, P Bonnemann, CG Aker, OE Akcoren, Z Nigro, V Kunkel, LM Topaloglu, H
Citation
P. Dincer et al., A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F, NEUROMUSC D, 10(4-5), 2000, pp. 247-250
Citations number
22
Categorie Soggetti
Neurosciences & Behavoir
Journal title
NEUROMUSCULAR DISORDERS
ISSN journal
09608966 → ACNP
Volume
10
Issue
4-5
Year of publication
2000
Pages
247 - 250
Database
ISI
SICI code
0960-8966(200006)10:4-5<247:AHNMID>2.0.ZU;2-E
Abstract
We present the first Turkish family with 6-sarcoglycanopathy (LGMD2F). A no vel truncating mutation (E93X) in exon 3 was identified in the gene. The in dex case showed a severe course and there was no cardiac involvement. LGMD2 F seems to be rare in our population. (C) 2000 Elsevier Science B.V. All ri ghts reserved.