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Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

Archive ouverte | Jacquier, Arnaud | CCSD

International audience. Distal hereditary motor neuropathy represents a group of motor inherited neuropathies leading to distal weakness. We report a family of two brothers and a sister affected by distal hereditary...

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

Archive ouverte | Jacquier, Arnaud | CCSD

International audience. Abstract Congenital myasthenic syndromes (CMS) are predominantly characterized by muscle weakness and fatigability and can be caused by a variety of mutations in genes required for neuromuscu...

Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy—Case Report

Archive ouverte | Pegat, Antoine | CCSD

International audience. X-linked Myopathy with Excessive Autophagy (XMEA) is a rare autophagic vacuolar myopathy caused by mutations in the Vacuolar ATPase assembly factor VMA21 gene; onset usually occurs during chi...

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