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Article

Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male.

Neuromuscular disorders : NMD - 1 Sept 2017

Hedberg-Oldfors Carola, Visuttijai Kittichate, Topa Alexandra, Tulinius Mar, Oldfors Anders

Abstract excerpt

X-linked recessive myotubular myopathy (XLMTM) is a disorder associated with mutations in the myotubularin gene (MTM1) that usually affects boys, with transmission of the mutated allele from the mother. Here we describe a family with unexpected grand paternal transmission of a novel mutation in MTM1 (c.646_648dupGTT; p.Val216dup) identified in a severely affected infant boy with a centronuclear myopathy. We...

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Source

Identifiers

PMID: 28622964
DOI: 10.1016/j.nmd.2017.05.004

Genes

MTM1

Variants

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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