Fig. 1.

Diagnostic algorithm for mitochondrial myopathies. (KSS - Kearns Sayre Syndrome; MDS - Mitochondrial Depletion Syndrome; MELAS - Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes; MERFF - Myoclonic Epilepsy and Ragged Red Fibers; MILS - Maternally Inherited Leigh Syndrome; MNGIE - Mitochondrial Neuro-Gastro-Intestinal Encephalopathy; NARP - Neuropathy, Ataxia and Retinitis Pigmentosa, PEO - Progressive External Ophthalmoplegia; WES - Whole Exome Sequencing; WGS - Whole Genome Sequencing).