Mitochondrial complex 2 deficiency, nuclear type 4

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, SDHB-related Nuclear type mitocondrial complex II deficiency, mitochondrial complex 2 deficiency, nuclear type 4, mitochondrial complex II deficiency, nuclear type 4

18 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial complex 2 deficiency, nuclear type 4 itself.