Ferlini, A; Sewry, C; Melis, MA; Mateddu, A; Muntoni, F; (1999) X-linked dilated cardiomyopathy and the dystrophin gene. NEUROMUSCULAR DISORD , 9 (5) 339 - 346.
Full text not available from this repository.
X-linked dilated cardiomyopathy (XLDC) represents a well known genetic disease, allelic to Duchenne and Pecker muscular dystrophies and caused by dystrophin gene mutations. XLDC is a rare disease and only few families have been fully characterised. In several of them, the dystrophin mutations show a different pattern of expression in cardiac compared to skeletal muscle. In the families with the most severe cardiac phenotype, the cardiac muscle is usually unable to produce dystrophin, due to a specific effect that the mutation(s) have on the gene transcription in this tissue. The skeletal muscle escapes the dystrophic changes by maintaining dystrophin synthesis via exon skipping or alternative splicing that the heart is not able to put in place. In this paper we have reviewed the families with X-linked dilated cardiomyopathy reported so far; in addition we provided novel transcription data on two families we previously described. The aim of this review is to attempt a genotype-phenotype correlation and speculate on common pathogenic mechanisms underlying this disease. (C) 1999 Elsevier Science B.V. All rights reserved.
|Title:||X-linked dilated cardiomyopathy and the dystrophin gene|
|Keywords:||dystrophin gene, cardiac muscle, skeletal muscle, protein domain, epitope, exon, intron, splicing, DUCHENNE MUSCULAR-DYSTROPHY, SKELETAL-MUSCLE, L1 ELEMENT, DMD GENE, MUTATION, BRAIN, INSERTION, PROMOTER, REGION, DEFICIENCY|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Neurosciences and Mental Health > ICH - Dubowitz Neuromuscular Centre|
Archive Staff Only: edit this record