Cargando…
Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report
Leigh syndrome (LS) is a rare, progressive, and fatal neurodegenerative disease that occurs mainly in infants and children. Neonatal LS has not yet been fully described. METHODS: The study design was approved by the ethics review board of Shenzhen Children’s Hospital. RESULTS: A 24-day-old full-term...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410648/ https://www.ncbi.nlm.nih.gov/pubmed/36042640 http://dx.doi.org/10.1097/MD.0000000000030303 |