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Article

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.

International journal of molecular sciences - 7 Sept 2022

Bosco Luca, Leone Daniela, Costa Comellas Laura, Monforte Mauro, Pane Marika, Mercuri Eugenio, Bertini Enrico, D'Amico Adele, Fattori Fabiana

Abstract excerpt

X-linked myotubular myopathy (XLMTM) is a severe form of centronuclear myopathy, characterized by generalized weakness and respiratory insufficiency, associated with pathogenic variants in the MTM1 gene. NGS targeted sequencing on the DNA of a three-month-old child affected by XLMTM identified the novel hemizygous MTM1 c.1261-5T>G intronic variant, which interferes with the normal splicing process, generating two...

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Identifiers

PMID: 36142184
DOI: 10.3390/ijms231810274
PMCID: PMC9499315

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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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