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

Toksoy G, Durmus H, Aghayev A, et al. Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling. Neuromuscular Disord 2019;29:601-613   Abstract We genetically evaluated 260 dystrophinopathy patients from Turkey. Karyotyping as an initial test in female patients, followed stepwise by multiplex ligation-dependent probe amplification and by targeted next-generation sequencing […]