Table 1.

Known diseases with mitochondrial malfunction.

Disease	Main Symptoms	Case Reports References	Cause
LHON (Leber hereditary optic neuropathy)	Vision loss (retinal ganglion cells and axon loss)	Significant decrease in visual acuity, dyschromatopsia [54,55,56]	m.T14484C (Complex1 ND6)
			m.G3460A (Complex1 ND1)
			m.G11778A (Complex1 ND4)
MERRF (Myoclonic epilepsy with ragged red fiber)	Myoclonus, generalized epilepsy, ataxia, myopathy, exercise intolerance	Bilateral primary optic atrophy, sensorineural hearing loss, gait unsteadiness [57]	m.A8344G (tRNA lysine)
		Slurred speech, fatigue, hearing loss, limb weakness [58]	m.G8363A (tRNA lysine)
		Dysphonia, memory loss, stroke-like episode [59]	m.A3243G (tRNA leucine)
MELAS (Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes)	Muscle weakness in whole body, dementia, aphasia, myoclonus, ataxia	Developing diabetes, hearing loss, progressively deteriorating functional status [60]	m.A3243G (tRNA leucine)
		Aphasia, subtle loss of muscle strength in right arm [61]
		Migraine-like headaches, muscle damage [62]
		disturbances of consciousness, ventilatory failure [63]
		Aeizures, transient sensory disturbances, weakness, visual impairment, cognitive impairment [64]	m.G13513A (Complex1 ND5)
Maternally inherited diabetes and deafness (MIDD)	Chronic kidney disease, deafness, loss of oral sensation, neuropathy, hearing loss, myopathy	Proteinuria, glomerular abnormality progressive renal failuare [65]	m.A3243G (tRNA leucine)
		Hearing loss, loss of oral sensation, dysarthria, drolling [66]
		Hearing loss, central nervous system diseases, myopathy, cardiac disease, nephropathy, underweight [10]
Pearson syndrome	Failure to thrive, malabsorption	Refractory anemia, digestive system failuare, bone marrow failure, metabolic disorders, gastrointestinal symptoms, renal disorders, pancreatic exocrine insufficiency [11]	Large deletion of mtDNA
		Malabsorption, lactic acidemia, sideroblasts on bone marrow evaluation, microcephaly [67]
Kearns–Sayre syndrome (KSS)	Heart block, growth retardation, external ophthalmoplegia, vestibular dysfunction	Vision loss, progressive external ophthalmoplegia, retinitis pigmentosa, heart block, vestibular dysfunction, growth retardation [68]	Large deletion of mtDNA
		Photophobia, nystagmus, sensorineural hearing loss, tremor, progressive cerebellar ataxia [69]
Chronic progressive external ophthalmoplegia (CPEO)	Loosing control of eyelids and eye movements, ptosis	Central neurogenic hyperventilation, restriction of eye movement and ptosis [70]	Multiple deletion of mtDNA
		Low birth weight and congenital deafness [71]
		Hemifacial weakness, dysarthria, mental retardation, sensorineural hearing loss [72]	mtDNA mutation with mitochondrial protein-encoding nuclear DNA mutations [73]
		Ophthalmoplegia, strabismus, loosing control of extraocular muscles [71]
Leigh syndrome	Neurological symptoms, cardiac dysfunction, dyspraxia	Blepharoptosis, ptosis, inability to walk, sensory deficits, fever [74]	m.T9176C (MT-ATP6)
		Delay of psychomotor development, cardiomyopathy [75]	m.A14453G (Complex1 ND6)
		Bilateral exotropia, nystagmus bilateral, childhood-onset neuromuscular regression [76]	Nuclear NDUFAF5 gene mutation, (Complex 1 NDUFAF5)
Barth syndrome	Heart failure	Left ventricular hypertrophy, heart failure with metabolic crisis [77]	Nuclear TAZ gene C640T (mitochondrial acyl chain composition remodeling enzyme)
Friedreich’s ataxia	Ataxia, gait unsteadiness, cardiomyopathy	Chest pain, dyspnea, palpitation, left ventricular hypertrophy [78]	Nuclear FAZ gene (mitochondrial iron metabolism related enzyme)
		Blindness, sensorineural deafness [79],