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Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related “core-rod” congenital myopathy

Archive ouverte | Malfatti, Edoardo | CCSD

International audience

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Archive ouverte | Malfatti, Edoardo | CCSD

International audience. Nemaline myopathy (NM) is a rare congenital myopathy characterised by hypotonia, muscle weakness, and often skeletal muscle deformities with the presence of nemaline bodies (rods) in the musc...

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Archive ouverte | O’grady, Gina L. | CCSD

This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing identif...

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