Genotype-phenotype correlations in a French cohort with Becker muscular dystrophy: focus on cognitive aspects

0

Becker muscular dystrophy (BMD) shares phenotypic similarities with Duchenne muscular dystrophy (DMD) because of their common genetic origin. Mutations involving Dp71 and Dp140 isoforms are known to be associated with mental retardation in DMD and BMD. The aim of our work was to study genotype- phenotype correlations in BMD patients with a particular interest to the cognitive functions. It was a bicentric, bispective, observational study in two French neuromuscular centers. Genetic, neurologic, cardiologic, respiratory data have been collected.

Read More...

Leave A Reply