Clinical and molecular spectrum associated with COL6A3 c.7447A>G variant: elucidating its role in Collagen VI-related myopathies

Archive ouverte | Quiles, R. Villar | CCSD

International audience

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

Archive ouverte | Theuriet, J. | CCSD

International audience. Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous diseases caused by mutations affecting neuromuscular transmission. Even if the first symptoms mainly occur d...

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

Archive ouverte | Allamand, V. | CCSD