Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy

BACKGROUND AND PURPOSE: The recent advances in genetics have helped to unravel the cause of many dystonia syndromes. With the broadening spectrum of genetically defined dystonia syndromes, distinct clinico‐radiological phenotypes are a welcome handle to guide the diagnostic work‐up. METHODS: Exome s...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Eur J Neurol
Autores principales: Balint, B., Charlesworth, G., Stamelou, M., Carr, L., Mencacci, N. E., Wood, N. W., Bhatia, K. P.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2019
Materias:
Short Communications
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6767441/
https://ncbi.nlm.nih.gov/pubmed/30897263
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ene.13956
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares