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Article

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

PLoS genetics - 1 Jan 2012

Amoasii Leonela, Bertazzi Dimitri L, Tronchère Hélène, Hnia Karim, Chicanne Gaëtan, Rinaldi Bruno, Cowling Belinda S, Ferry Arnaud, Klaholz Bruno, Payrastre Bernard, Laporte Jocelyn, Friant Sylvie

Abstract excerpt

Myotubularin MTM1 is a phosphoinositide (PPIn) 3-phosphatase mutated in X-linked centronuclear myopathy (XLCNM; myotubular myopathy). We investigated the involvement of MTM1 enzymatic activity on XLCNM phenotypes. Exogenous expression of human MTM1 in yeast resulted in vacuolar enlargement, as a consequence of its phosphatase activity. Expression of mutants from patients with different clinical progression and...

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Identifiers

PMID: 23071445
DOI: 10.1371/journal.pgen.1002965
PMCID: PMC3469422

Genes

MTM1

Variants

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