A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.

Abstract excerpt

We report a novel and particularly unusual type of mutation, namely, large deletion in the RYR1 gene, in a Belgian family with myopathy: Patients were found to be compound heterozygous and presented a clinico-pathological phenotype characterized by late-onset and recessive myopathy with cores. We depict the clinical, electrophysiological, pathological and molecular genetic characteristics of family members. To...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Belgium
• Share to Family
• Share to Gene Deletion