Muscular phenotype description of abnormal THOC2 splicing.
Neuromuscul Disord
; 33(12): 978-982, 2023 Dec.
Article
in En
| MEDLINE
| ID: mdl-37945483
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Arthrogryposis
/
RNA Splicing
/
RNA-Binding Proteins
/
Intellectual Disability
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
Neuromuscul Disord
Journal subject:
NEUROLOGIA
Year:
2023
Document type:
Article