Ontology highlight
ABSTRACT:
SUBMITTER: Daniele N
PROVIDER: S-EPMC5939852 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Danièle Nathalie N Moal Christelle C Julien Laura L Marinello Martina M Jamet Thibaud T Martin Samia S Vignaud Alban A Lawlor Michael W MW Buj-Bello Ana A
Journal of neuropathology and experimental neurology 20180401 4
X-linked myotubular myopathy (XLMTM) is a severe congenital disorder in male infants that leads to generalized skeletal muscle weakness and is frequently associated with fatal respiratory failure. XLMTM is caused by loss-of-function mutations in the MTM1 gene, which encodes myotubularin, the founder member of a family of 15 homologous proteins in mammals. We recently demonstrated the therapeutic efficacy of intravenous delivery of rAAV vectors expressing MTM1 in animal models of myotubular myopa ...[more]