Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants, Dystrophinopathies (Duchenne and Becker muscular dystrophies and X-linked dilated cardiomyopathy) are disorders of striated muscle in which dystrophin is absent, reduced or dysfunctional. Dystrophin is encoded by the giant DMD gene, spanning two megabases of chromosome Xp21 [1]., Dystrophinopathies (Duchenne and Becker muscular dystrophies and X-linked dilated cardiomyopathy) are disorders of striated muscle in which dystrophin is absent, reduced or dysfunctional. Dystrophin is encoded by the giant DMD gene, spanning two megabases of chromosome Xp21 [1]., admin,