Suggestions

Du même auteur

A new Centronuclear Myopathy phenotype due to a novel Dynamin 2 mutation

Archive ouverte | Bitoun, Marc | CCSD

International audience

Mutations in dynamin 2 cause dominant Centronuclear Myopathy

Archive ouverte | Bitoun, Marc | CCSD

International audience. Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. In 11 families affected by centronuclear myopathy, we ...

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.

Archive ouverte | Bevilacqua, J. A. | CCSD

International audience. AIMS: To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene ...

Chargement des enrichissements...