Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle - PubMed (original) (raw)
Comparative Study
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle
Gert Van Goethem et al. Hum Mutat. 2003 Aug.
No abstract available
Similar articles
- [ANT1, twinkle, POLG mutation].
Komaki H, Goto Y. Komaki H, et al. Nihon Rinsho. 2002 Apr;60 Suppl 4:353-6. Nihon Rinsho. 2002. PMID: 12013885 Review. Japanese. No abstract available. - Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M. Agostino A, et al. Neurology. 2003 Apr 22;60(8):1354-6. doi: 10.1212/01.wnl.0000056088.09408.3c. Neurology. 2003. PMID: 12707443 - Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN. Wanrooij S, et al. Nucleic Acids Res. 2004 Jun 4;32(10):3053-64. doi: 10.1093/nar/gkh634. Print 2004. Nucleic Acids Res. 2004. PMID: 15181170 Free PMC article. - POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Hudson G, Deschauer M, Taylor RW, Hanna MG, Fialho D, Schaefer AM, He LP, Blakely E, Turnbull DM, Chinnery PF. Hudson G, et al. Neurology. 2006 May 9;66(9):1439-41. doi: 10.1212/01.wnl.0000210486.32196.24. Neurology. 2006. PMID: 16682683 - Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.
Van Goethem G, Martin JJ, Van Broeckhoven C. Van Goethem G, et al. Acta Neurol Belg. 2002 Mar;102(1):39-42. Acta Neurol Belg. 2002. PMID: 12094562 Review.
Cited by
- A new pathogenic POLG variant.
Nicholas Russo S, Shah EG, Copeland WC, Koenig MK. Nicholas Russo S, et al. Mol Genet Metab Rep. 2022 Jul 12;32:100890. doi: 10.1016/j.ymgmr.2022.100890. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35860755 Free PMC article. - TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Percetti M, Franco G, Monfrini E, Caporali L, Minardi R, La Morgia C, Valentino ML, Liguori R, Palmieri I, Ottaviani D, Vizziello M, Ronchi D, Di Berardino F, Cocco A, Macao B, Falkenberg M, Comi GP, Albanese A, Giometto B, Valente EM, Carelli V, Di Fonzo A. Percetti M, et al. Mov Disord. 2022 Sep;37(9):1938-1943. doi: 10.1002/mds.29139. Epub 2022 Jul 6. Mov Disord. 2022. PMID: 35792653 Free PMC article. - De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.
Lee Y, Kim T, Lee M, So S, Karagozlu MZ, Seo GH, Choi IH, Lee PCW, Kim CJ, Kang E, Lee BH. Lee Y, et al. Genes (Basel). 2021 Feb 17;12(2):284. doi: 10.3390/genes12020284. Genes (Basel). 2021. PMID: 33671400 Free PMC article. - Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.
Cauley ES, Hamed A, Mohamed IN, Elseed M, Martinez S, Yahia A, Abozar F, Abubakr R, Koko M, Elsayed L, Piao X, Salih MA, Manzini MC. Cauley ES, et al. Neurogenetics. 2019 May;20(2):91-98. doi: 10.1007/s10048-019-00577-2. Epub 2019 Apr 13. Neurogenetics. 2019. PMID: 30982090 - Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.
Da Pozzo P, Cardaioli E, Rubegni A, Gallus GN, Malandrini A, Rufa A, Battisti C, Carluccio MA, Rocchi R, Giannini F, Bianchi A, Mancuso M, Siciliano G, Dotti MT, Federico A. Da Pozzo P, et al. Neurol Sci. 2017 Apr;38(4):563-570. doi: 10.1007/s10072-016-2734-3. Epub 2017 Jan 27. Neurol Sci. 2017. PMID: 28130605
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases