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Article

Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice.

Journal of neuropathology and experimental neurology - 1 Apr 2018

Danièle Nathalie, Moal Christelle, Julien Laura, Marinello Martina, Jamet Thibaud, Martin Samia, Vignaud Alban, Lawlor Michael W, Buj-Bello Ana

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 29408998
DOI: 10.1093/jnen/nly002
PMCID: PMC5939852

Genes

MTM1
MTMR2
MTMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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