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

• Main Authors: Mansour Al Qurashi (Author), Ahmed Mustafa (Author), Syed Sameer Aga (Author), Abrar Ahmad (Author), Abdellatif El-Farra (Author), Aiman Shawli (Author), Mohammed Al Hindi (Author), Mohammed Hasosah (Author)
• Format: Book
• Published: BMC, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...