Mitochondrial complex 2 deficiency, nuclear type 4
Mitochondrial complex 2 deficiency, nuclear type 4
Definition
An autosomal recessive disorder due to pathogenic variants in the SDHB gene, resulting in Mitochondrial complex II deficiency and a variety of clinical manifestations, including neurological and muscular symptoms.
Also known as MC2DN4, mitochondrial complex 2 deficiency, nuclear type 4, mitochondrial complex II deficiency, nuclear type 4, SDHB-related Nuclear type mitocondrial complex II deficiency — per MONDO