Gupta R, Kanai M, Durham TJ, Tsuo K, Mccoy JG, Kotrys AV, et al. Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. Nature. 2023;620:839–48.
Article CAS PubMed PubMed Central Google Scholar
Romo L, Gold NB, Walker MA. Endocrine features of primary mitochondrial diseases. Curr Opin Endocrinol Diabetes Obes. 2024;31:34–42.
Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol. 2015;77:753–9.
Article CAS PubMed PubMed Central Google Scholar
Ibayashi K, Fujino Y, Mimaki M, Fujimoto K, Matsuda S, Goto YI. Estimation of the number of patients with mitochondrial diseases: a descriptive study using a nationwide database in Japan. J Epidemiol. 2023;33:68–75.
Article PubMed PubMed Central Google Scholar
Mensah EA, Sarfo B, Yawson AE, Arthur J, Ocloo A. Knowledge and awareness of mitochondrial diseases among physicians in the tertiary hospitals in Ghana. PLoS ONE. 2022;17:e0276549.
Article CAS PubMed PubMed Central Google Scholar
Grigalionienė K, Burnytė B, Ambrozaitytė L, Utkus A. Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease. Orphanet J Rare Dis. 2023;18:307.
Article PubMed PubMed Central Google Scholar
Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, et al. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol. 2021;20:573–84.
Article CAS PubMed Google Scholar
Gouiza I, Hechmi M, Zioudi A, Dallali H, Kheriji N, Charif M, et al. Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing. Front Genet. 2023;14:1259826.
Article CAS PubMed Google Scholar
Xia CY, Liu Y, Liu H, Zhang YC, Ma YN, Qi Y. Clinical and molecular characteristics in 100 Chinese pediatric patients with m.3243A>G mutation in mitochondrial DNA. Chin Med J (Engl). 2016;129:1945–9.
Article CAS PubMed Google Scholar
Rivner MH, Shamsnia M, Swift TR, Trefz J, Roesel RA, Carter AL, et al. Kearns-Sayre syndrome and complex II deficiency. Neurology. 1989;39:693–6.
Article CAS PubMed Google Scholar
Mcfarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurol. 2010;9:829–40.
Article CAS PubMed Google Scholar
Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS, et al. Diagnosis, genetics, and therapy of short stature in children: a growth hormone research society international perspective. Horm Res Paediatr. 2019;92:1–14.
Article CAS PubMed Google Scholar
Pfanner N, Warscheid B, Wiedemann N. Mitochondrial proteins: from biogenesis to functional networks. Nat Rev Mol Cell Biol. 2019;20:267–84.
Article CAS PubMed PubMed Central Google Scholar
Vaillancourt RE, Petty A, Mckinnon GE. Maternal inheritance of mitochondria in Eucalyptus globulus. J Hered. 2004;95:353–5.
Article CAS PubMed Google Scholar
Nielsen SR, Hansen SG, Bistrup C, Brusgaard K, Frederiksen AL. Bone deformities and kidney failure: coincidence of PHEX-related hypophosphatemic rickets and m.3243A>G mitochondrial disease. Calcif Tissue Int. 2022;111:641–5.
Article CAS PubMed Google Scholar
Lim AZ, Blakely EL, Baty K, He L, Hopton S, Falkous G, et al. A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes. Mitochondrion. 2019;47:18–23.
Article CAS PubMed PubMed Central Google Scholar
Shen C, Xian W, Zhou H, Li X, Liang X, Chen L. Overlapping Leigh syndrome/myoclonic epilepsy with ragged red fibres in an adolescent patient with a mitochondrial DNA A8344G mutation. Front Neurol. 2018;9:724.
Article PubMed PubMed Central Google Scholar
Niedermayr K, Pölzl G, Scholl-Bürgi S, Fauth C, Schweigmann U, Haberlandt E, et al. Mitochondrial DNA mutation “m.3243A>G”-Heterogeneous clinical picture for cardiologists (“m.3243A>G”: a phenotypic chameleon). Congenit Heart Dis. 2018;13:671–7.
Narumi K, Mishima E, Akiyama Y, Matsuhashi T, Nakamichi T, Kisu K, et al. Focal segmental glomerulosclerosis associated with chronic progressive external ophthalmoplegia and mitochondrial DNA A3243G mutation. Nephron. 2018;138:243–8.
Article CAS PubMed Google Scholar
Matsuzaki M, Izumi T, Shishikura K, Suzuki H, Hirayama Y. Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Neuropediatrics. 2002;33:271–3.
Article CAS PubMed Google Scholar
Vissing J, Salamon MB, Arlien-Søborg P, Nørby S, Manta P, Dimauro S, et al. A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance. Neurology. 1998;50:1875–8.
Article CAS PubMed Google Scholar
Yorifuji T, Kawai M, Momoi T, Sasaki H, Furusho K, Muroi J, et al. Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. J Med Genet. 1996;33:621–2.
Article CAS PubMed PubMed Central Google Scholar
Balestri P, Grosso S. Endocrine disorders in two sisters affected by MELAS syndrome. J Child Neurol. 2000;15:755–8.
Article CAS PubMed Google Scholar
Santorelli FM, Siciliano G, Casali C, Basirico MG, Carrozzo R, Calvosa F, et al. Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy. Neuromuscul Disord. 1997;7:156–9.
Article CAS PubMed Google Scholar
Murakami K, Sakamoto K, Ishiguchi H, Ito H. Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes diagnosed after metformin-triggered stroke-like episodes. J Stroke Cerebrovasc Dis. 2023;32:107080.
Fang W, Huang CC, Chu NS, Lee CC, Chen RS, Pang CY, et al. Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene. Muscle Nerve. 1994;17:52–7.
Article CAS PubMed Google Scholar
Lu Y, Zhao D, Yao S, Wu S, Hong D, Wang Q, et al. Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy. J Neurol Sci. 2017;379:137–43.
Article CAS PubMed Google Scholar
Testai FD, Gorelick PB. Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. Arch Neurol. 2010;67:148–53.
Manwaring N, Jones MM, Wang JJ, Rochtchina E, Howard C, Mitchell P, et al. Population prevalence of the MELAS A3243G mutation. Mitochondrion. 2007;7:230–3.
Article CAS PubMed Google Scholar
Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Battista V, et al. Protean phenotypic features of the A3243G mitochondrial DNA mutation. Arch Neurol. 2009;66:85–91.
Comments (0)