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...

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Detalles Bibliográficos
Autores principales: Men, Lina, Feng, Jinxing, Huang, Weimin, Xu, Mingguo, Zhao, Xiaoli, Sun, Ruixin, Xu, Jianfang, Cao, Liming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Research Article
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

Internet

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

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