Article
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.
Neuromuscular disorders : NMD - 1 Dec 2007
Neri Marcella, Torelli Silvia, Brown Sue, Ugo Isabella, Sabatelli Patrizia, Merlini Luciano, Spitali Pietro, Rimessi Paola, Gualandi Francesca, Sewry Caroline, Ferlini Alessandra, Muntoni Francesco
Abstract excerpt
Mutations in the dystrophin gene give rise to Duchenne and Becker muscular dystrophies (DMD and BMD), in which both skeletal and cardiac muscles are affected, but also to X-linked dilated cardiomyopathy (XLDC), a condition characterised by exclusive cardiac involvement. XLDC patients with mutations at the 5' end of the gene typically have a cardiac specific severe transcriptional pathology, with absent dystrophin...
Topics
- Adolescent
- Adult
- Cardiomyopathy, Dilated
- DNA Mutational Analysis
- Dystrophin
- Genetic Diseases, X-Linked
- Genetic Predisposition to Disease
- Genetic Testing
- Genotype
- Humans
- Male
- Muscle, Skeletal
- Muscular Dystrophy, Duchenne