Expanding the Phenotypic Spectrum of MC3DN8: A Report of Three Patients Homozygous for the c.73G>A Variant in the LYRM7 Gene
Purpose: To describe the clinical and neuroimaging features of mitochondrial complex III deficiency, nuclear type 8 (MC3DN8), associated with a recurrent leucine tyrosine arginine motif protein 7 ( LYRM7 ) variant, and to place these findings in the context of the existing literature. Methods: We describe three pediatr...