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Article

Muscular phenotype description of abnormal THOC2 splicing.

Neuromuscular disorders : NMD - 1 Dec 2023

Dubucs Charlotte, Rendu John, Michel-Calemard Laurence, Menassa Rita, Langeois Maud, Nicaise Yvan, Ousselin Jessie, Aziza Jacqueline, Uro-Coste Emmanuelle

Abstract excerpt

Until recently, the disease known to be associated with THOC2 mutations was Intellectual developmental disorder, X-linked 12 (MIM300957). However, recently, fetal arthrogryposis multiplex congenita has been associated with a specific splice site mutation in the THOC2 gene. We report a family with the same splice site mutation in the THOC2 gene involved in fetal arthrogryposis as well. We provide the first...

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Identifiers

PMID: 37945483
DOI: 10.1016/j.nmd.2023.09.009

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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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