Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry.

Archive ouverte | Semplicini, C. | CCSD

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...

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

Archive ouverte | Gérard, L. | CCSD

International audience. The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 re...