New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy patients.

Archive ouverte | Alonso-Pérez, Jorge | CCSD

International audience

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Archive ouverte | Töpf, Ana | CCSD

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

Archive ouverte | Esteller, Diana | CCSD

International audience. Background: The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropat...