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

Dincer, PERVİN; Bonnemann, CG; Aker, OE; Akcoren, Z; Nigro, V; Kunkel, LM; Topaloglu, H

doi:10.1016/s0960-8966(00)00100-0

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., ...Daha Fazla

NEUROMUSCULAR DISORDERS, cilt.10, ss.247-250, 2000 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 10
Basım Tarihi: 2000
Doi Numarası: 10.1016/s0960-8966(00)00100-0
Dergi Adı: NEUROMUSCULAR DISORDERS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.247-250
Hacettepe Üniversitesi Adresli: Evet

Özet

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.