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Mitochondrial Retinopathies.
Zeviani M, Carelli V. Zeviani M, et al. Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. Int J Mol Sci. 2021. PMID: 35008635 Free PMC article. Review.
The main genetic abnormalities of mtDNA include mutations associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) sometimes with earlier onset and increased severity (maternally inherited Leigh syndrome, MILS), single large-s …
The main genetic abnormalities of mtDNA include mutations associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) …
Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation.
Finsterer J. Finsterer J. Acta Neurol Scand. 2007 Jul;116(1):1-14. doi: 10.1111/j.1600-0404.2007.00836.x. Acta Neurol Scand. 2007. PMID: 17587249 Review.
In single cases the A3,243G mutation may be associated with maternally inherited diabetes and deafness syndrome, myoclonic epilepsy and ragged-red fibers (MERRF) syndrome, MELAS/MERRF overlap syndrome, maternally inherited Leigh syndrome, chronic exter …
In single cases the A3,243G mutation may be associated with maternally inherited diabetes and deafness syndrome, myoclonic epilepsy and ragg …
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation.
Debray FG, Lambert M, Lortie A, Vanasse M, Mitchell GA. Debray FG, et al. Am J Med Genet A. 2007 Sep 1;143A(17):2046-51. doi: 10.1002/ajmg.a.31880. Am J Med Genet A. 2007. PMID: 17663470 Review.
Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause neurogenic weakness, ataxia and retinitis pigmentosa (NARP syndrome), or maternally inherited Leigh syndrome (LS), with a correlation between the amount of mutant mtDNA and the severity o …
Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause neurogenic weakness, ataxia and retinitis pigmentosa (NARP syndrome), or …
Human mitochondrial diseases: answering questions and questioning answers.
Howell N. Howell N. Int Rev Cytol. 1999;186:49-116. doi: 10.1016/s0074-7696(08)61051-7. Int Rev Cytol. 1999. PMID: 9770297 Review.
The major mitochondrial encephalomyopathies include MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MERRF (myoclonic epilepsy with ragged red fibers), KSS/CPEO (Kearns-Sayre syndrome/chronic progressive external ophthalmoplegia), and NARP/MILS …
The major mitochondrial encephalomyopathies include MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MERR …
Pathogenesis of primary defects in mitochondrial ATP synthesis.
Schon EA, Santra S, Pallotti F, Girvin ME. Schon EA, et al. Semin Cell Dev Biol. 2001 Dec;12(6):441-8. doi: 10.1006/scdb.2001.0281. Semin Cell Dev Biol. 2001. PMID: 11735378 Review.
These include NARP (neuropathy, ataxia, and retinitis pigmentosa), MILS (maternally inherited Leigh syndrome), and FBSN (familial bilateral striatal necrosis). ...
These include NARP (neuropathy, ataxia, and retinitis pigmentosa), MILS (maternally inherited Leigh syndrome), a …
[Maternally inherited Leigh syndrome].
Naito E. Naito E. Nihon Rinsho. 2002 Apr;60 Suppl 4:437-40. Nihon Rinsho. 2002. PMID: 12013906 Review. Japanese. No abstract available.