Muscular phenotype description of abnormal THOC2 splicing.
Cytoplasmic body
Fetal arthrogryposis
Myopathy
THOC2 mutation
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
02
08
2023
revised:
20
09
2023
accepted:
26
09
2023
pubmed:
10
11
2023
medline:
10
11
2023
entrez:
9
11
2023
Statut:
ppublish
Résumé
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 description of the muscular phenotype of this disease which reveals the presence of cytoplasmic bodies. Our findings expand the clinical phenotype of THOC2 gene related defects.
Identifiants
pubmed: 37945483
pii: S0960-8966(23)00735-6
doi: 10.1016/j.nmd.2023.09.009
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
978-982Informations de copyright
Copyright © 2023. Published by Elsevier B.V.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no competing interests.