Carregando...
SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder – deafness syndrome
SUCLA2 is a component of mitochondrial succinate‐CoA ligase and nucleotide diphosphokinase activities. Its absence results in Krebs cycle failure, mitochondrial DNA depletion, and a childhood‐fatal encephalomyopathy. We describe a purely neurologic allelic form of the disease consisting of deafness,...
Na minha lista:
| Publicado no: | Ann Clin Transl Neurol |
|---|---|
| Principais autores: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7818133/ https://ncbi.nlm.nih.gov/pubmed/33231368 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51247 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|