Genes involved in mitochondrial complex deficiency diseases

There are a variety of conditions that can be caused by mitochondrial complex deficiencies, including Leigh syndrome, diabetes mellitus and deafness, neuropathies, cardiomyopathies and encephalopathies. Mutations causing mitochondrial-related disorders can be found in both nuclear- and mitochondrial-encoded genes.

General Information links for mitochondrial complex deficiency disorders:

The two tables below show genes implicated in mitochondrial-based disease (ordered by complex) and stocks available from the BDSC (in alphabetical order by gene).