Article
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Human molecular genetics - 15 Feb 2012
Pierson Christopher R, Dulin-Smith Ashley N, Durban Ashley N, Marshall Morgan L, Marshall Jordan T, Snyder Andrew D, Naiyer Nada, Gladman Jordan T, Chandler Dawn S, Lawlor Michael W, Buj-Bello Anna, Dowling James J, Beggs Alan H
Abstract excerpt
X-linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of MTM1, which encodes the phosphoinositide lipid phosphatase, myotubularin. The Mtm1 knockout (KO) mouse has a severe phenotype and its short lifespan (8 weeks) makes it a challenge to use as a model in the testing of certain preclinical therapeutics. Many MTM patients succumb early in life, but some have a more...
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