Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling

Dystrophinopathy is a group of X linked muscle diseases caused by pathogenic DMD variants that manifest in a clinical spectrum ranging from asymptomatic hyperCKemia and muscle cramps with myoglobinuria at the mild end to Becker muscular dystrophy (BMD, MIM 300376), DMD-associated dilated cardiomyopathy (XL-DCM, MIM 302045) and Duchenne muscular dystrophy (DMD, MIM 310200) at the severe end. Establishing precise identification of those pathogenic DMD variants not only expatiate our understanding of the molecular pathology underlying dystrophinopathies, but also helps with clarifying phenotype-genotype correlation, which is important for genetic counseling and rendering families ’ options for therapeutic interventions [1].

Source: Neuromuscular Disorders - March 26, 2019 Category: Neurology Authors: G Toksoy, H Durmus Tekce, A Aghayev, G Bagirova, B Sevinc Rustemoglu, S Basaran, S Avc ı, B Karaman, Y Parman, U Altunoglu, Z Yapici, P Tekturk, F Deymeer, H Topaloglu, H Kayserili, P Oflazer-Serdaroglu, ZO Uyguner Source Type: research