TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.
J Inherit Metab Dis
; 45(6): 1039-1047, 2022 11.
Article
in En
| MEDLINE
| ID: mdl-36047296
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Strabismus
/
Epilepsies, Myoclonic
/
Alkyl and Aryl Transferases
/
Language Development Disorders
Type of study:
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
J Inherit Metab Dis
Year:
2022
Type:
Article
Affiliation country:
United States