| 1 | MT-ATP6, NARP
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| NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
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| López-Gallardo E, Solano A, Herrero-Martín MD, Martínez-Romero I, Castaño-Pérez MD, Andreu AL, Herrera A, López-Pérez MJ, Ruiz-Pesini E, Montoya J.
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| J Med Genet 46(1):64-7.
2009
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| 2 | NARP
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| The mtDNA NARP mutation activates the actin-Nrf2 signaling of antioxidant defenses.
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| Dassa EP, Paupe V, Gonalves S, Rustin P.
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| Biochem Biophys Res Commun 368(3):620-4. Epub 2008 Feb 6. 2008
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| 3 | LHON, MELAS, MERRF, NARP
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| Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
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| Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M, Tiranti V.
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| Biochim Biophys Acta iochim Biophys Acta. 2008 Oct 15. [Epub ahead of print]
2008
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| 4 | MT-ATP6, NARP, SNE1
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| Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.
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| Childs AM, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow YJ.
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| Neuropediatrics 38(6):313-6.PMID: 18461509 2007
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| 5 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
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| Nuclear genetic defects of oxidative phosphorylation.
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| Shoubridge EA.
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| Hum Mol Genet 10(20):2277-84. Review. 2001
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| 6 | NARP
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| The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
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| Parfait B, et al.
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| Eur J Pediatr 158 : 55-58. 1999
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| 7 | NARP
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| Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases.
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| Majander A, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus ML, Wikstrom M.
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| FEBS Lett 412(2):351-4. 1997
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| 8 | SNE1, NARP
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| Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).
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| Pastores GM, et al.
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| Am J Med Genet 50 : 265-271. 1994
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| 9 | NARP
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| A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
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| Holt IJ, et al.
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| Am J Hum Genet 46 : 428-433. 1990
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