Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.

摘要: Abstract Mutations in the dystrophin gene give rise to Duchenne and Becker muscular dystrophies (DMD BMD), which both skeletal cardiac muscles are affected, but also X-linked dilated cardiomyopathy (XLDC), a condition characterised by exclusive involvement. XLDC patients with mutations at 5′ end of typically have specific severe transcriptional pathology, absent heart, while reduced levels virtually normal transcript protein present muscle. We now report identification new family detailed characterisation muscle this family, three previously studied families. found that comprised between 29% 57% were sufficient avoid weakness these This information will be help for development therapeutic approaches aimed restoring prevent pathology DMD.