Загрузка...
A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia
Both nuclear and mitochondrial DNA defects can cause isolated cytochrome c oxidase (COX; complex IV) deficiency, leading to the development of the mitochondrial disease. We report a 52-year-old female patient who presented with a late-onset, progressive cerebellar ataxia, tremor and axonal neuropath...
Сохранить в:
| Опубликовано в: : | J Clin Med |
|---|---|
| Главные авторы: | , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
MDPI
2019
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6617079/ https://ncbi.nlm.nih.gov/pubmed/31167410 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm8060789 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|