Mutations in <i>SDHD</i> lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

Abstract

This report describes the first case of isolated complex II deficiency due to recessive SDHD germline mutations. We therefore recommend screening for all SDH genes in isolated complex II deficiencies. It further emphasises the importance of appropriate genetic counselling to the family with regard to SDHD mutations and their role in tumorigenesis.