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POLG-related disorders and their neurological manifestations.
Rahman S, Copeland WC. Rahman S, et al. Nat Rev Neurol. 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. Nat Rev Neurol. 2019. PMID: 30451971 Free PMC article. Review.
Mutations in POLG can cause early childhood mitochondrial DNA (mtDNA) depletion syndromes or later-onset syndromes arising from mtDNA deletions. ...The six leading disorders caused by POLG mutations are Alpers-Huttenlocher syndrome, which is one of the most s …
Mutations in POLG can cause early childhood mitochondrial DNA (mtDNA) depletion syndromes or later-onset syndromes arising fro …
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.
Progressive external ophthalmoplegia (PEO) with secondary accumulation of multiple deletions of mitochondrial DNA (mtDNA) clinically resembles disorders due to primary mutations of mtDNA but follows a Mendelian inheritance pattern. The di
Progressive external ophthalmoplegia (PEO) with secondary accumulation of multiple deletions of mitochondrial
Polymerase gamma 1 mutations: clinical correlations.
Milone M, Massie R. Milone M, et al. Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Neurologist. 2010. PMID: 20220442 Review.
BACKGROUND: Mitochondrial disorders result from primary defects in the mitochondrial DNA (mtDNA) or from defects in nuclear genes which cause disease by affecting the mtDNA. ...Less than a decade ago, POLG1 mutations were discovered in patients with progre
BACKGROUND: Mitochondrial disorders result from primary defects in the mitochondrial DNA (mtDNA) or from defects in nuc …
Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.
Hirano M, Marti R, Ferreiro-Barros C, Vilà MR, Tadesse S, Nishigaki Y, Nishino I, Vu TH. Hirano M, et al. Semin Cell Dev Biol. 2001 Dec;12(6):417-27. doi: 10.1006/scdb.2001.0279. Semin Cell Dev Biol. 2001. PMID: 11735376 Review.
Depletion and multiple deletions of mitochondrial DNA (mtDNA) have been associated with a growing number of autosomal diseases that have been classified as defects of intergenomic communication. ...Subsequently, mutations in the mitochondrial pr …
Depletion and multiple deletions of mitochondrial DNA (mtDNA) have been associated with a growing number of autosoma
The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease.
Sharer JD. Sharer JD. IUBMB Life. 2005 Sep;57(9):607-14. doi: 10.1080/15216540500217735. IUBMB Life. 2005. PMID: 16203679 Free article. Review.
Mitochondrial disorders of oxidative phosphorylation (OXPHOS) comprise a growing list of potentially lethal diseases caused by mutations in either mitochondrial (mtDNA) or nuclear DNA (nDNA). Two such conditions, autosomal dominant progressive
Mitochondrial disorders of oxidative phosphorylation (OXPHOS) comprise a growing list of potentially lethal diseases caused by mutati
Neurological disorders due to mutations of the mitochondrial genome.
Zeviani M, DiDonato S. Zeviani M, et al. Neuromuscul Disord. 1991;1(3):165-72. doi: 10.1016/0960-8966(91)90020-s. Neuromuscul Disord. 1991. PMID: 1822790 Review.
On the other hand, three sporadic entities, Chronic Progressive External Ophthalmoplegia, Kearns-Sayre syndrome, and Pearson's pancreas-bone marrow syndrome, are due to single large-scale deletions of mitochondrial DNA. ...Finally, tissue …
On the other hand, three sporadic entities, Chronic Progressive External Ophthalmoplegia, Kearns-Sayre syndrome, and Pe …