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

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

Abstract 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 desc...

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Bibliographic Details
Main Authors: Mansour Al Qurashi, Ahmed Mustafa, Syed Sameer Aga, Abrar Ahmad, Abdellatif El-Farra, Aiman Shawli, Mohammed Al Hindi, Mohammed Hasosah
Format: Article
Language:English
Published: BMC 2022-03-01
Series:BMC Medical Genomics
Subjects:
BCS1L gene
Complex III
Mitopathy
Metabolic acidosis
Björnstad syndrome
Leigh syndrome
Online Access:https://doi.org/10.1186/s12920-022-01210-2

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