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

• मुख्य लेखकों: Mansour Al Qurashi (लेखक), Ahmed Mustafa (लेखक), Syed Sameer Aga (लेखक), Abrar Ahmad (लेखक), Abdellatif El-Farra (लेखक), Aiman Shawli (लेखक), Mohammed Al Hindi (लेखक), Mohammed Hasosah (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2022-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...