Table 1. Clinical syndromes due to mutations in genes encoding fission and fusion machinery components.

Gene	OMIM	Inheritance	Disease	Symptoms	Refs
MFN2	608507	AD	Charcot–Marie–Tooth disease type 2A	Distal limb muscle weakness and atrophy, axonal degeneration/regeneration, areflexia, distal sensory loss (pain and temperature more frequent) with or without: (a) CNS involvement (cognitive decline, spasticity, encephalopathy), (b) optic atrophy, (c) hearing loss and (d) vocal cord paresis	[24]
		AR	Charcot–Marie–Tooth disease type 2A		[174]
		AD	Hereditary motor and sensory neuropathy VIA		[178]
OPA1	605290	AD	Optic atrophy 1	Progressive loss of visual acuity, temporal optic nerve pallor, central scotoma with or without: (a) CNS (ataxia, spasticity, hearing loss) and (b) PNS (axonal sensorineural polyneuropathy) symptoms.	[26]
		AD	Optic atrophy plus syndrome		[25]
		AR	Behr syndrome	Early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity and mental retardation	[185]
MSTO1	617619	AR/AD	Myopathy and ataxia	Hand and feet muscle weakness, growth impairment, fine tremor, cerebellar hypotrophy with or without: (a) white matter hyperintensities, (b) frontal lobe atrophy and (c) mental retardation	[27] [28]
DNM1L	603850	AR/AD	Encephalopathy	Abnormal brain development, seizures, hepatic dysfunction, encephalopathy, dysmorphism.	[20] [187]
		AD	Optic atrophy 5	Progressive loss of visual acuity, optic nerve atrophy and central scotoma	[188]
MFF	614785	AR	Encephalopathy	Seizures, dysphagia, optic and peripheral neuropathy, developmental delay, microcephaly, cerebellar atrophy and basal ganglia lesions	[22]
MIEF2	615498	AR	Mitochondrial myopathy	Progressive muscle weakness, intermittent muscle pain and exercise intolerance	[23]
DNM2	602378	AD	Centronuclear myopathy 1	Slowly progressive muscle weakness.	[21]
		AD	Charcot–Marie–Tooth disease, axonal type 2M	Distal limb muscle weakness and atrophy and sensory impairment, areflexia +/-neutropenia.	[180]
		AD	Charcot–Marie–Tooth disease, dominant intermediate B
		AR	Lethal congenital contracture syndrome 5	Polyhydramnios, decreased foetal movements, intracranial bleeding, retinal haemorrhage, joint contractures and respiratory insufficiency
SLC25A46	610826	AR	Pontocerebellar hypoplasia type 1	Early onset of optic atrophy, peripheral axonal sensorimotor neuropathy, ataxia, myoclonus, cerebellar atrophy, hypotonia with variable degree of severity, age at onset and association of symptoms	[189]
		AR	Hereditary sensory motor neuropathy		[31]
		AR	Optic atrophy spectrum disorders		[30]
GDAP1	606598	AR	Charcot–Marie–Tooth disease type 4A	Distal limb muscle weakness and atrophy and sensory impairment, areflexia with or without: (a) axonal regeneration and (b) vocal cord paresis	[176] [175]
		AR/AD	Charcot–Marie–Tooth disease type 2K
		AR	Charcot–Marie–Tooth disease type A
		AR	Charcot–Marie–Tooth disease with vocal cord paresis
INF2	610982	AD	Charcot–Marie–Tooth disease type E	Distal limb muscle weakness and atrophy and sensory impairment, areflexia, sensorineural hearing loss and foot drop	[177]
		AD	Focal segmental glomerulosclerosis	Proteinuria and renal failure	[179]

A non-exhaustive list of the diseases related to the principal identified mutations in genes encoding the core components of mitochondrial dynamics with associated symptoms. Abbreviations: AD, autosomal dominant; AR, autosomal recessive; CNS, central nervous system; OMIM, Online Mendelian Inheritance in Man®; PNS, peripheral nervous system.