Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Ann Clin Transl Neurol
; 11(3): 819-825, 2024 Mar.
Article
in En
| MEDLINE
| ID: mdl-38327089
ABSTRACT
INTRODUCTION:
COXPD23 is a rare mitochondrial disease caused by biallelic pathogenic variants in GTPBP3. We report on two siblings with a mild phenotype. CASE REPORTS The young boy presented with global developmental delay, ataxic gait and upper limbs tremor, and the older sister with absence seizures and hypertrophic cardiomyopathy. Respiratory chain impairment was confirmed in muscle.DISCUSSION:
Reviewed cases point toward clustering around two prevalent phenotypes an early-onset presentation with severe fatal encephalopathy and a late milder presentation with global developmental delay/ID and cardiopathy, with the latter as, is the main feature. Our patients showed an intermediate phenotype with intrafamilial variability.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Seizures
/
Mitochondrial Diseases
Limits:
Humans
/
Male
Language:
En
Journal:
Ann Clin Transl Neurol
Year:
2024
Document type:
Article
Affiliation country: