16. MITOCHONDRIAL MYOPATHIES (Return to Disease group)
Disease phenotype
Item in this table
References
Gene symbol (chromosome)
protein
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 - (AD)
16.1
Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 2001 Jul;28(3):211-2. (11431686)
POLG (15q25)
Polymerase (DNA directed), gamma
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 - (AD)
16.2
Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen S, Peltonen L, Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000; 289: 782-785 (10926541)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 - (AD)
16.3
Suomalainen, A.; Majander, A.; Wallin, M.; Setala, K.; Kontula, K.; Leinonen, H.; Salmi, T.; Paetau, A.; Haltia, M.; Valanne, L.; Lonnqvist, J.; Peltonen, L.; Somer, H. : Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 48: 1244-1253, 1997. (11431692)
Spelbrink, J. N.; Li, F.-Y.; Tiranti, V.; Nikali, K.; Yuan, Q.-P.; Tariq, M.; Wanrooij, S.; Garrido, N.; Comi, G.; Morandi, L.; Santoro, L.; Toscano, A.; and 9 others : Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nature Genet. 28: 223-231, 2001. (9153451)
TWNK (10q23.-q24.1)
Twinkle mtDNA helicase
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 - (AD)
16.4
Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 2006;78:1026-1034 (16685652)
POLG2 (17q24.1)
Mitochondrial DNA polymerase, accessory subunit
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 - (AD)
16.5
Tyynismaa, H., Ylikallio, E., Patel, M., Molnar, M. J., Haller, R. G., Suomalainen, A. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am. J. Hum. Genet. 85: 290-295, 2009. (19664747)
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - (AD)
16.6
Ronchi, D., Di Fonzo, A., Lin, W., Bordoni, A., Liu, C., Fassone, E., Pagliarani, S., Rizzuti, M., Zheng, L., Filosto, M., Ferro, M. T., Ranieri, M., and 10 others. Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. Am. J. Hum. Genet. 92: 293-300, 2013. (23352259)
DNA2 (10q21.3)
DNA replication helicase 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - (AR)
16.7
Deschauer, M., Tennant, S., Rokicka, A., He, L., Kraya, T., Turnbull, D. M., Zierz, S., Taylor, R. W. MELAS associated with mutations in the POLG1 gene. Neurology 68: 1741-1742, 2007. (17502560)
POLG (15q25)
Polymerase (DNA directed), gamma
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - (AR)
16.8
Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. Am J Hum Genet. 2015 Jul 2;97(1):186-93. doi: 10.1016/j.ajhg.2015.05.013. Epub 2015 Jun 18. (26094573)
RNASEH1 (2p25.3)
Ribonuclease H1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - (AR)
16.9
Tyynismaa, H., Sun, R., Ahola-Erkkila, S., Almusa, H., Poyhonen, R., Korpela, M., Honkaniemi, J., Isohanni, P., Paetau, A., Wang, L., Suomalainen, A. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Hum. Molec. Genet. 21: 66-75, 2012. (21937588)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - (AR)
16.10
Ronchi, D., Garone, C., Bordoni, A., Gutierrez Rios, P., Calvo, S. E., Ripolone, M., Ranieri, M., Rizzuti, M., Villa, L., Magri, F., Corti, S., Bresolin, N., Mootha, V. K., Moggio, M., DiMauro, S., Comi, G. P., Sciacco, M. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain 135: 3404-3415, 2012. (23043144)
DGUOK (2p13.1)
Deoxyguanosine kinase
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - (AR)
16.11
Nicholls, T. J., Nadalutti, C. A., Motori, E., Sommerville, E. W., Gorman, G. S., Basu, S., Hoberg, E., Turnbull, D. M., Chinnery, P. F., Larsson, N.-G., Larsson, E., Falkenberg, M., Taylor, R. W., Griffith, J. D., Gustafsson, C. M. Topoisomerase 3-alpha is required for decatenation and segregation of human mtDNA. Molec. Cell 69: 9-23, 2018. (29290614)
TOP3A (17p11.2)
DNA topoisomerase III
Mitochondrial DNA depletion syndrome 1 (MNGIE type) - (AR)
16.12
Nishino, I., Spinazzola, A., Hirano, M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689-692, 1999. (9924029)
TYMP (22q13.33)
Thymidine phosphorylase
Mitochondrial DNA depletion syndrome 2 (myopathic type) - (AR)
16.13
Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342-344. (11687801)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - (AR)
16.14
Mandel, H., Szargel, R., Labay, V., Elpeleg, O., Saada, A., Shalata, A., Anbinder, Y., Berkowitz, D., Hartman, C., Barak, M., Eriksson, S., Cohen, N. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genet. 29: 337-341, 2001. Note: Erratum: Nature Genet. 29: 491 only, 2001. (11687800)
DGUOK (2p13.1)
Deoxyguanosine kinase
Mitochondrial DNA depletion syndrome 4A (Alpers type) - (AR)
16.15
Naviaux, R. K., Nguyen, K. V. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann. Neurol. 55: 706-712, 2004. (15122711)
Nguyen, K. V., Ostergaard, E., Ravn, S. H., Balslev, T., Danielsen, E. R., Vardag, A., McKiernan, P. J., Gray, G., Naviaux, R. K. POLG mutations in Alpers syndrome. Neurology 65: 1493-1495, 2005. (16177225)
POLG (15q25)
Polymerase (DNA directed), gamma
Mitochondrial DNA depletion syndrome 4B (MNGIE type) - (AR)
16.16
Van Goethem, G., Schwartz, M., Lofgren, A., Dermaut, B., Van Broeckhoven, C., Vissing, J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Europ. J. Hum. Genet. 11: 547-549, 2003. (12825077)
POLG (15q25)
Polymerase (DNA directed), gamma
Mitochondrial DNA depletion syndrome 11 - (AR)
16.17
Kornblum, C., Nicholls, T. J., Haack, T. B., Scholer, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., Wieland, T., Sciacco, M., and 13 others. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nature Genet. 45: 214-219, 2013. (23313956)
MGME1 (20p11.23)
Mitochondrial genome maintenance exonuclease 1
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - (AD)
16.18
Thompson, K., Majd, H., Dallabona, C., Reinson, K., King, M. S., Alston, C. L., He, L., Lodi, T., Jones, S. A., Fattal-Valevski, A., Fraenkel, N. D., Saada, A., and 16 others. Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number. Am. J. Hum. Genet. 99: 860-876, 2016. Note: Erratum: Am. J. Hum. Genet. 99: 1405 only, 2016. (27693233)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - (AR)
16.19
Palmieri, L., Alberio, S., Pisano, I., Lodi, T., Meznaric-Petrusa, M., Zidar, J., Santoro, A., Scarcia, P., Fontanesi, F., Lamantea, E., Ferrero, I., Zeviani, M. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum. Molec. Genet. 14: 3079-3088, 2005. (16155110)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - (AR)
16.20
Spiegel, R., Saada, A., Flannery, P. J., Burte, F., Soiferman, D., Khayat, M., Eisner, V., Vladovski, E., Taylor, R. W., Bindoff, L. A., Shaag, A., Mandel, H., Schuler-Furman, O., Shalev, S. A., Elpeleg, O., Yu-Wai-Man, P. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. J. Med. Genet. 53: 127-131, 2016. (26561570)
OPA1 (3q28-q29)
optic atrophy 1
Optic atrophy with or without deafness, ophtalmoplegia, myopathy, ataxia and neuropathy - (AD)
16.21
Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissi²®re A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Mart²≠n MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain. 2008 Feb;131(Pt 2):338-51. Epub 2007 Dec 24. (18065439)
Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain. 2008 Feb;131(Pt 2):329-37. Epub 2007 Dec 7. (18158317)
OPA1 (3q28-q29)
optic atrophy 1
Myopathy, lactic acidosis, and sideroblastic anemia 1 - (AR)
16.22
Bykhovskaya, Y., Casas, K., Mengesha, E., Inbal, A., Fischel-Ghodsian, N. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am. J. Hum. Genet. 74: 1303-1308, 2004. (15108122)
PUS1 (12q24.33)
Pseudouridylate synthase 1
Myopathy, lactic acidosis, and sideroblastic anemia-2 - (AR)
16.23
Riley, L. G., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S. C., Thorburn, D., Ryan, M. T., Giege, R., Bahlo, M., Christodoulou, J. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia-MLASA syndrome. Am. J. Hum. Genet. 87: 52-59, 2010. (20598274)
YARS2 (12p11.21)
Tyrosyl-tRNA synthetase 2, mitochondrial
Isolated mitochondrial myopathy - (AD)
16.24
Ajroud-Driss S, Fecto F, Ajroud K, Lalani I, Calvo SE, Mootha VK, Deng HX, Siddique N, Tahmoush AJ, Heiman-Patterson TD, Siddique T. Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. Neurogenetics. 2014 Sep 6. (25193783)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10
Combined oxidative phosphorylation deficiency 43 - (AR)
16.25
Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P. Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy. Hum Mol Genet. 2018 Dec 1;27(23):4135-4144. doi: 10.1093/hmg/ddy305. (30452684)
TIMM22 (17q13.3)
Translocase of inner mitochondrial membrane 22
Mitochondrial complex IV deficiency, nuclear type 18 - (AR)
16.26
Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I. COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. Ann Neurol. 2019 Jun 2. doi: 10.1002/ana.25517. (31155743)
COX6A2 (16p11.2)
Cytochrome c-oxidase, subunit 6A2
Mitochondrial myopathy with severe neurological manifestations - (AR)
16.27
Nazli A., Safdar A., Saleem A., Akhtar M., Brady L.I., Schwartzentruber J., et al. A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. Eur J Hum Genet. 2017 Jun;25(6):744-751. doi: 10.1038/ejhg.2017.20. Epub 2017 Mar 15. (28295037)
TMEM65 (8q24.13)
Transmembrane Protein 65
Infantile-onset multisystem disease with progressive muscle weakness - (AR)
16.28
Hu H., Matter M.L., Issa-Jahns L., Jijiwa M., Kraemer N., Musante L., et al. Mutations in PTRH2 cause novel infantileonset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Ann. Clin. Transl. Neurol. 1: 1024-1035, 2014. (25574476)
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2
Myopathy, mitochondrial and cerebellar ataxia - (AR)
16.29
Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6. (28544275)
Ardicli D, Sarkozy A, Zaharieva I, Deshpande C, Bodi I, Siddiqui A, U-King-Im JM, Selfe A, Phadke R, Jungbluth H, Muntoni F. A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. Neuromuscul Disord. 2019 Jun;29(6):448-455. doi: 10.1016/j.nmd.2019.03.011. Epub 2019 Mar 27. (31130378)
Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol. 2019 Aug 29. doi: 10.1007/s00401-019-02059-z. (31463572)
MSTO1 (1q22)
Misato homolog 1 (Drosophila)
Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy - (AR)
16.30
Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F. A novel complex neurological phenotype due to a homozygous mutation in FDX2. Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172. (30010796)
FDX2 (19p13.2)
Ferredoxin
Mitochondrial complex I deficiency, nuclear type 29 - (AR)
16.31
Alston, C. L., Compton, A. G., Formosa, L. E., Strecker, V., Olahova, M., Haack, T. B., Smet, J., Stouffs, K., Diakumis, P., Ciara, E., Cassiman, D., Romain, N., and 19 others. Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. Am. J. Hum. Genet. 99: 217-227, 2016. [PubMed: 27374774, (27374773)
Sanchez-Caballero, L., Ruzzenente, B., Bianchi, L., Assouline, Z., Barcia, G., Metodiev, M. D., Rio, M., Funalot, B., van den Brand, M. A. M., Guerrero-Castillo, S., Molenaar, J. P., Koolen, D., Brandt, U., Rodenburg, R. J., Nijtmans, L. G., Rotig, A. Mutations in complex I assembly factor TMEM126B result in muscle weakness and isolated complex I deficiency. Am. J. Hum. Genet. 99: 208-216, 2016. PubMed: 27374773, (27374774)
TMEM126B (11q14.1)
Transmembrane protein 126B
Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features - (XL)
16.32
Beninca C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, J Robinson A, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, S F Santos ML, R de Souza RL, Fernandez-Vizarra E, J Whitworth A, Zeviani M. Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. J Med Genet. 2021 Mar;58(3):155-167. doi: 10.1136/jmedgenet-2020-106861. Epub 2020 May 21. PMID: 32439808; PMCID: PMC7116790. (32439808)
APOO (Xp22.11)
Apolipoprotein O
Myopathy, mitochondrial progressive, with congenital cataract and developmental delay - (AR)
16.33
Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet. 2009 May;84(5):594-604. doi: 10.1016/j.ajhg.2009.04.004. Epub 2009 Apr 30. PMID: 19409522; PMCID: PMC2681006. (19409522)
GFER (16p13.3)
Growth Factor ERV1-Like
Mitochondrial complex IV deficiency, nuclear type 22 - (AR)
16.34
Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Hum Mutat. 2021 Feb;42(2):135-141. doi: 10.1002/humu.24137. Epub 2020 Nov 30. PMID: 33169484; PMCID: PMC7898715. (33169484)
COX16 (14q24.2)
Cytochrome c Oxidase Assembly Factor 16
Mitochondrial myopathy related to SLC25A26 - (AR)
16.35
Schober FA, Tang JX, Sergeant K, Moedas MF, Zierz CM, Moore D, Smith C, Lewis D, Guha N, Hopton S, Falkous G, Lam A, Pyle A, Poulton J, Gorman GS, Taylor RW, Freyer C, Wredenberg A. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. Hum Mol Genet. 2022 Jun 22;31(12):2049-2062. doi: 10.1093/hmg/ddac002. PMID: 35024855; PMCID: PMC9239748. (35024855)
SLC25A26 (3p14.1)
Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26
Mitochondrial myopathy and multiple mtDNA deletions - (AR)
16.36
Nasca A, Legati A, Meneri M, Ermert ME, Frascarelli C, Zanetti N, Garbellini M, Comi GP, Catania A, Lamperti C, Ronchi D, Ghezzi D. Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions. Cells. 2022 Mar 12;11(6):974. doi: 10.3390/cells11060974. PMID: 35326425; PMCID: PMC8946636. (35326425)
ENDOG (9q34.11)
Endonuclease G, mitochondrial
Multiple mitochondrial dysfunctions syndrome 10 - (AR)
16.37
Maio, N., Orbach, R., Zaharieva, I. T., Topf, A., Donkervoort, S., Munot, P., Mueller, J., Willis, T., Verma, S., Peric, S., Krishnakumar, D., Sudhakar, S., and 13 others. CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes. J. Clin. Invest. 134: e179559, 2024.[PubMed: 38950322, (38950322)
CIAO1 (2q11.2)
WD40 repeat-containing protein CIAO1