Mitochondrial Membrane Protein-Associated Neurodegeneration: A Case Series of Six Children.
Ann Indian Acad Neurol
; 23(6): 802-804, 2020.
Article
en En
| MEDLINE
| ID: mdl-33688131
ABSTRACT
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. Mitochondrial membrane protein-associated neurodegeneration (MPAN), a subtype of NBIA, is caused by mutation in the orphan gene C19orf12. A slowly progressive gait disorder from generalized dystonia and spasticity and cognitive impairment constitute the main features of MPAN. The C19orf12 p.Thr11Met mutation is frequent among Turkish patients with MPAN. Here, we report the clinical manifestations and genetic study results of six Turkish patients with MPAN due to different mutations from previous.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Risk_factors_studies
Idioma:
En
Revista:
Ann Indian Acad Neurol
Año:
2020
Tipo del documento:
Article
País de afiliación:
Turquía