A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.
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.
Dinçer
P
P
Hacettepe University, Faculty of Medicine, Department of Medical Biology, Children's Hospital, 06100 Sihhiye, Ankara, Turkey. pdincer@gen.hun.edu.tr
Bönnemann
C G
CG
Erdir Aker
O
O
Akçoren
Z
Z
Nigro
V
V
Kunkel
L M
LM
Topalolu
H
H
D000293:Adolescent; D009202:Cardiomyopathies / Q000235:genetics / Q000473:pathology; D018389:Codon, Nonsense / Q000235:genetics; D003241:Consanguinity; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D049031:Sarcoglycans; D014421:Turkey
D018389:Codon, Nonsense; D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans