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Article

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.

European journal of human genetics : EJHG - 1 Jan 2021

Bryen Samantha J, Oates Emily C, Evesson Frances J, Lu Jessica K, Waddell Leigh B, Joshi Himanshu, Ryan Monique M, Cummings Beryl B, McLean Catriona A, MacArthur Daniel G, Kornberg Andrew J, Cooper Sandra T

Abstract excerpt

X-linked myotubular myopathy (XLMTM) is a severe congenital myopathy characterised by generalised weakness and respiratory insufficiency. XLMTM is associated with pathogenic variants in MTM1; a gene encoding the lipid phosphatase myotubularin. Whole genome sequencing (WGS) of an exome-negative male proband with severe hypotonia, respiratory insufficiency and centralised nuclei on muscle biopsy identified a deep...

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

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Identifiers

PMID: 32862205
DOI: 10.1038/s41431-020-00715-7
PMCID: PMC7852879

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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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