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Inherited mitochondrial neuropathies.
Finsterer J. Finsterer J. J Neurol Sci. 2011 May 15;304(1-2):9-16. doi: 10.1016/j.jns.2011.02.012. Epub 2011 Mar 13. J Neurol Sci. 2011. PMID: 21402391 Review.
Mitochondrial disorders (MIDs) occasionally manifest as polyneuropathy either as the dominant feature or as one of many other manifestations (inherited mitochondrial neuropathy). MIDs in which polyneuropathy is the dominant feature, include NARP syndrome due …
Mitochondrial disorders (MIDs) occasionally manifest as polyneuropathy either as the dominant feature or as one of many other manifestations …
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.
Maternally inherited mutations in the mtDNA-encoded ATPase 6 subunit of complex V (ATP synthase) of the respiratory chain/oxidative phosphorylation system are responsible for a subgroup of severe and often-fatal disorders characterized predominantly by lesions in the brain, parti …
Maternally inherited mutations in the mtDNA-encoded ATPase 6 subunit of complex V (ATP synthase) of the respiratory chain/oxidative phosphor …
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 …
Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause neurogenic weakness, ataxia and retinitis pigmentosa ( …
Recent developments in the molecular genetics of mitochondrial disorders.
Graeber MB, Müller U. Graeber MB, et al. J Neurol Sci. 1998 Jan 8;153(2):251-63. doi: 10.1016/s0022-510x(97)00295-5. J Neurol Sci. 1998. PMID: 9511882 Review.
MELAS and MERRF mutations are heteroplasmic and there is considerable clinical overlap between these diseases. Point mutations within the ATPase6 gene result in either neuropathy, ataxia and retinitis pigmentosa (NARP) or in Leigh's syndrome …
MELAS and MERRF mutations are heteroplasmic and there is considerable clinical overlap between these diseases. Point mutations within the AT …
The role of mitochondria in inherited neurodegenerative diseases.
Kwong JQ, Beal MF, Manfredi G. Kwong JQ, et al. J Neurochem. 2006 Jun;97(6):1659-75. doi: 10.1111/j.1471-4159.2006.03990.x. J Neurochem. 2006. PMID: 16805775 Free article. Review.
In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant optic atr …
In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinso …
[Diseases caused by mutations in mitochondrial DNA].
Wojewoda M, Zabłocki K, Szczepanowska J. Wojewoda M, et al. Postepy Biochem. 2011;57(2):222-9. Postepy Biochem. 2011. PMID: 21913424 Review. Polish.
There have been also found mutations in genes encoding subunits of ATP synthase such as 8993T-->G substitution associated with NARP (neuropathy, ataxia and retinitis pigmentosa) syndrome. It is worth to note that mitochondrial dysfunct …
There have been also found mutations in genes encoding subunits of ATP synthase such as 8993T-->G substitution associated with NARP …