H. L. Dong, Y. Ma, and Q. F. Li, Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing, CNS Neurosci Ther, 2018.

J. Finsterer, Mitochondrial ataxias, Can J Neurol Sci, vol.36, pp.543-553, 2009.

S. J. Pickett, J. P. Grady, and Y. S. Ng, Phenotypic heterogeneity in m.3243AxxbbbG mitochondrial disease: The role of nuclear factors, Ann Clin Transl Neurol, vol.5, issue.3, pp.333-345, 2018.

M. I. Ullah, A. Nasir, and A. Ahmad, Identification of novel L2HGDH mutation in a large consanguineous Pakistani family-a case report, BMC Med Genet, vol.19, issue.1, p.25, 2018.

Y. Langer, A. Aran, and S. Gulsuner, Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy, J Med Genet, 2018.

Y. Higuchi, R. Okunushi, and T. Hara, Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy, Brain, vol.141, pp.1622-1636, 2018.

E. Seong, R. Insolera, and M. Dulovic, Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects, Ann Neurol, 2018.

C. G. Bouwkamp, Z. Afawi, and A. Fattal-valevski, ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia, Neurol Genet, vol.4, issue.2, p.223, 2018.

D. J. Pomerantz, S. Ferdinandusse, and J. Cogan, Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant, Am J Med Genet A, vol.176, pp.692-698, 2018.

A. Alsemari, B. Al-younes, and E. Goljan, Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism, Hum Genomics, vol.11, issue.1, p.28, 2017.

G. Heimer, E. Eyal, and X. Zhu, Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin, Eur J Paediatr Neurol, vol.22, pp.93-101, 2018.

Z. Li, Y. Peng, and R. B. Hufnagel, Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice, Hum Mol Genet, vol.26, pp.3776-3791, 2017.

C. Pisciotta, M. E. Shy, and . Neuropathy, Handb Clin Neurol, vol.148, pp.653-665, 2018.

J. Finsterer, S. Zarrouk-mahjoub, and J. M. Shoffner, MERRF classification: implications for diagnosis and clinical trials, Pediatr Neurol, vol.80, pp.8-23, 2018.