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Article

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Human molecular genetics - 15 Jan 2017

Bachmann Christoph, Jungbluth Heinz, Muntoni Francesco, Manzur Adnan Y, Zorzato Francesco, Treves Susan

Abstract excerpt

Centronuclear myopathies are early-onset muscle diseases caused by mutations in several genes including MTM1, DNM2, BIN1, RYR1 and TTN. The most severe and often fatal X-linked form of myotubular myopathy (XLMTM) is caused by mutations in the gene encoding the ubiquitous lipid phosphatase myotubularin, an enzyme specifically dephosphorylating phosphatidylinositol-3-phosphate and...

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Source

Identifiers

PMID: 28007904
DOI: 10.1093/hmg/ddw388

Genes

MTM1
BIN1
DNM2
RYR1
TTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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