Bilateral horizontal gaze palsy in an 8-year-old girl: A rare case with NDUFS4 gene mutation.
Clin Case Rep
; 9(9): e04748, 2021 Sep.
Article
em En
| MEDLINE
| ID: mdl-34484776
ABSTRACT
We report a patient with complex clinical presentation including multiple neurological symptoms and eye involvement. Upon genetic investigation, the patient was found to carry a novel homozygous mutation in the NDUFS4 gene, thus adding to the heterogeneity of Leigh syndrome clinical presentation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Clin Case Rep
Ano de publicação:
2021
Tipo de documento:
Article