Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy.

doi:10.1172/jci.insight.189286

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Article

Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy.

JCI insight - 24 Nov 2025

Moschovaki-Filippidou Foteini, Kretz Christine, Reiss David, Chicanne Gaëtan, Payrastre Bernard, Laporte Jocelyn

Abstract excerpt

The MTM1 gene encodes myotubularin (MTM1), a phosphatidylinositol 3-phosphate [PI(3)P] lipid phosphatase. Loss-of-function mutations in MTM1 cause X-linked myotubular myopathy (XLMTM), a severe congenital myopathy with no available cure and a poorly understood pathomechanism. The importance of MTM1 enzymatic activity and its PI(3)P substrate in physiology under normal conditions and in XLMTM is unclear. We...

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Topics

Animals
Myopathies, Structural, Congenital
Protein Tyrosine Phosphatases, Non-Receptor
Mice
Muscle, Skeletal
Phosphatidylinositol Phosphates

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Disease Models, Animal

TOR Serine-Threonine Kinases

Male

Mutation

Humans

Phenotype

Female

Source

Open in PubMed Open full text

Identifiers

PMID: 41086017
DOI: 10.1172/jci.insight.189286
PMCID: PMC12643485

Genes

MTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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