The LYRM7 gene encodes a mitochondrial protein crucial for complex III assembly by stabilizing the Rieske iron–sulfur protein (UQCRFS1). Pathogenic variants are typically biallelic and result in mitochondrial complex III deficiency. Types of mutations include start-loss and splice site variants, among others. Diagnosis is confirmed by genetic testing and supported by biochemical evidence of complex III deficiency.
LYRM7