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Article

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

PLoS genetics - 1 Feb 2009

Dowling James J, Vreede Andrew P, Low Sean E, Gibbs Elizabeth M, Kuwada John Y, Bonnemann Carsten G, Feldman Eva L

Abstract excerpt

Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no current therapies. Myotubular myopathy was the first desc...

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Source

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Identifiers

PMID: 19197364
DOI: 10.1371/journal.pgen.1000372
PMCID: PMC2631153

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19197364-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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