Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient

BACKGROUND: Of the many types of mitochondrial diseases, mutations affecting BCS1L gene are regarded as chief cause of the defective mitochondrial complex-III, affecting normal mitochondrial functioning, and leading to wide variety of phenotypes. CASE PRESENTATION: In this case report we describe a...

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Detalles Bibliográficos
Autores principales: Al Qurashi, Mansour, Mustafa, Ahmed, Aga, Syed Sameer, Ahmad, Abrar, El-Farra, Abdellatif, Shawli, Aiman, Al Hindi, Mohammed, Hasosah, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8933996/
https://www.ncbi.nlm.nih.gov/pubmed/35305621
http://dx.doi.org/10.1186/s12920-022-01210-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8933996/
https://www.ncbi.nlm.nih.gov/pubmed/35305621
http://dx.doi.org/10.1186/s12920-022-01210-2

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