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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.
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. ...The six leading disorders caused by POLG mutations are Alpers-Huttenlocher syndrome, which is one of the most severe phenotypes; …
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT. DiMauro S, et al. Arch Neurol. 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. Arch Neurol. 1993. PMID: 8215979 Review.
In addition, nDNA encodes several factors that control mtDNA replication, transcription, and translocation. Mitochondrial diseases due to mutations in nDNA are transmitted as mendelian traits and fall into three categories: (1) alterations of mitochondrial proteins; …
In addition, nDNA encodes several factors that control mtDNA replication, transcription, and translocation. Mitochondrial diseases du …
Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.
Van Goethem G, Martin JJ, Van Broeckhoven C. Van Goethem G, et al. Neuromolecular Med. 2003;3(3):129-46. doi: 10.1385/NMM:3:3:129. Neuromolecular Med. 2003. PMID: 12835509 Review.
Over the last decade, many sporadic and familial cases have been reported with multiple deletions of mitochondrial DNA (mtDNA) in postmitotic tissues. Most patients suffer from progressive external ophthalmoplegia (PEO) and may have a nuc …
Over the last decade, many sporadic and familial cases have been reported with multiple deletions of mitochondrial DNA
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
Martin-Negrier ML, Sole G, Jardel C, Vital C, Ferrer X, Vital A. Martin-Negrier ML, et al. Eur J Neurol. 2011 Mar;18(3):436-41. doi: 10.1111/j.1468-1331.2010.03171.x. Epub 2010 Sep 29. Eur J Neurol. 2011. PMID: 20880070 Review.
BACKGROUND: Multiple mitochondrial DNA (mtDNA) deletions usually have a mendelian inheritance secondary to mutation in nuclear genes. One of these is the Twinkle gene whose mutation is responsible for autosomal dominant progressive
BACKGROUND: Multiple mitochondrial DNA (mtDNA) deletions usually have a mendelian inheritance secondary to mutation in …
Defects of intergenomic communication: where do we stand?
Hirano M, Vu TH. Hirano M, et al. Brain Pathol. 2000 Jul;10(3):451-61. doi: 10.1111/j.1750-3639.2000.tb00277.x. Brain Pathol. 2000. PMID: 10885664 Free PMC article. Review.
An expanding number of autosomal diseases has been associated with mitochondrial DNA (mtDNA) depletion and multiple deletions. ...In 1989, autosomal dominant progressive external ophthalmoplegia with multiple delet
An expanding number of autosomal diseases has been associated with mitochondrial DNA (mtDNA) depletion and multiple …
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, …
On the other hand, three sporadic entities, Chronic Progressive External Ophthalmoplegia, Kearns-Sayre syndrome, …
Mitochondrial DNA mutations in diseases of energy metabolism.
Wallace DC. Wallace DC. J Bioenerg Biomembr. 1994 Jun;26(3):241-50. doi: 10.1007/BF00763096. J Bioenerg Biomembr. 1994. PMID: 8077179 Review.
A variety of degenerative diseases involving deficiencies in mitochondrial bioenergetics have been associated with mitochondrial DNA (mtDNA) mutations. ...More severe rearrangements frequently involving detections have been associated with adult-onset Chro
A variety of degenerative diseases involving deficiencies in mitochondrial bioenergetics have been associated with mitochondrial
[Classification of mitochondrial diseases].
López de Munain A. López de Munain A. Rev Neurol. 1998 Apr;26 Suppl 1:S9-14. Rev Neurol. 1998. PMID: 9810585 Review. Spanish.
All these diseases are transmitted through maternal line. conditions which are usually sporadic are due to deletion or duplication of mitochondrial DNA, and give rise to myopathies, with or without ophthalmoplegia, and to more complex disorders such as …
All these diseases are transmitted through maternal line. conditions which are usually sporadic are due to deletion or duplication of …