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Article

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.

Neuromuscular disorders : NMD - 1 May 2012

Trump N, Cullup T, Verheij J B G M, Manzur A, Muntoni F, Abbs S, Jungbluth H

Abstract excerpt

X-linked myotubular myopathy is a predominantly severe congenital myopathy with central nuclei on muscle biopsy due to mutations in the MTM1 gene encoding myotubularin. We report a boy with typical features of X-linked myotubular myopathy. Sequencing of the MTM1 gene did not reveal any causative mutations. Subsequent MLPA analysis identified a duplication of MTM1 exon 10 both in the patient and his mother....

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Share to Chromosomes, Human, X
Share to Exons
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

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Share to Myopathies, Structural, Congenital

Share to Protein Tyrosine Phosphatases, Non-Receptor

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Source

Identifiers

PMID: 22153990
DOI: 10.1016/j.nmd.2011.11.004

Genes

MTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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