Page 62 - Read Online

Page 80 Webb et al. J Transl Genet Genom 2020;4:71-80 I https://doi.org/10.20517/jtgg.2020.11

34. Fine AS, Nemeth CL, Kaufman ML, Fatemi A. Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of
developmental disorders of myelination. J Neurodev Disord 2019;11:29.
35. D’Souza AR, Minczuk M. Mitochondrial transcription and translation: overview. Essays Biochem 2018;62:309-20.
36. Amunts A, Brown A, Toots J, Scheres SHW, Ramakrishnan V. Ribosome. The structure of the human mitochondrial ribosome. Science
2015;348:95-8.
37. Greber BJ, Bieri P, Leibundgut M, Leitner A, Aebersold R, et al. Ribosome. The complete structure of the 55S mammalian mitochondrial
ribosome. Science 2015;348:303-8.
38. Hakli S, Luotonen M, Sorri M, Majamaa K. Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children
with hearing impairment. BMC Med Genet 2015;16:3.
39. Zhao H, Li R, Wang Q, Yan Q, Deng JH, et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated
with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 2004;74:139-52.
40. Kullar PJ, Gomez-Duran A, Gammage PA, Garone C, Minczuk M, et al. Heterozygous SSBP1 start loss mutation co-segregates with
hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family. Brain 2018;141:55-62.
41. Alila-Fersi O, Chamkha I, Majdoub I, Gargouri L, Mkaouar-Rebai E, et al. Co segregation of the m.1555A>G mutation in the MT-RNR1
gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: a whole mitochondrial
genome screening. Biochem Biophys Res Commun 2017;484:71-8.
42. Bianco A, Bisceglia L, De Caro MF, Galeandro V, De Bonis P, et al. Leber’s hereditary optic neuropathy, intellectual disability and
epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite
in MTRNR1 gene - case report. BMC Med Genet 2018;19:129.
43. Liu Z, Song Y, Li D, He X, Li S, et al. The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic
cardiomyopathy. J Med Genet 2014;51:176-84.
44. Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, et al. Biallelic mutations in MRPS34 lead to instability of the small
mitoribosomal subunit and leigh syndrome. Am J Hum Genet 2017;101:239-54.
45. Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, et al. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary
ovarian insufficiency. Hum Mol Genet 2018;27:1913-26.