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

Mansour Al QurashiAhmed MustafaSyed Sameer AgaAbrar AhmadAbdellatif El-FarraAiman ShawliMohammed Al HindiMohammed Hasosah

Published in: BMC medical genomics (2022)

A pathogenic effect of this novel BCS1L mutation was reflected in the patient with his failure to thrive and a complex clinical and metabolic phenotype.

Keyphrases

case report