References
- Ma L, Mao W, Xu E, et al. Novel POLG mutation in a patient with early-onset parkinsonism, progressive external ophthalmoplegia and optic atrophy. Int J Neurosci. 2019;13(8):1–3.
- Mehta SH, Dickson DW, Morgan JC, et al. Juvenile onset Parkinsonism with “pure nigral” degeneration and POLG1 mutation. Parkinsonism Relat Disord. 2016;30:83–85.
- Mukai M, Sugaya K, Matsubara S, et al. Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation. Rinsho Shinkeigaku. 2014;54(5):417–422.
- Milone M, Massie R. Polymerase gamma 1 mutations: clinical correlations. Neurologist. 2010;16(2):84–91.
- McKelvie P, Marotta R, Thorburn DR, et al. A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations. Neuromuscul Disord. 2012;22(5):401–405.
- Cheldi A, Ronchi D, Bordoni A, et al. Bersano A; Lombardia GENS collaborators. POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome. BMC Neurol. 2013;13(1). DOI:10.1186/1471-2377-13-8
- de Vries MC, Rodenburg RJ, Morava E, et al. Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. J Inherit Metab Dis. 2008;31(S2):299– 302.
- Roos S, Macao B, Fusté JM, et al. Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected. Hum Mol Genet. 2013;22(12):2411–2422.
- Finsterer J. Inherited mitochondrial neuropathies. J Neurol Sci. 2011;304(1-2):9–16.
- Komulainen T, Hinttala R, Kärppä M, et al. POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype. BMC Neurol. 2010;10(1):29.