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| 1 | Rita Xu | + 452 word(s) | 452 | 2020-12-15 07:32:29 |
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Xu, R. Myoclonic Epilepsy Myopathy Sensory Ataxia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4421 (accessed on 25 September 2026).
Xu R. Myoclonic Epilepsy Myopathy Sensory Ataxia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4421. Accessed September 25, 2026.
Xu, Rita. "Myoclonic Epilepsy Myopathy Sensory Ataxia" Encyclopedia, https://encyclopedia.pub/entry/4421 (accessed September 25, 2026).
Xu, R. (2020, December 23). Myoclonic Epilepsy Myopathy Sensory Ataxia. In Encyclopedia. https://encyclopedia.pub/entry/4421
Xu, Rita. "Myoclonic Epilepsy Myopathy Sensory Ataxia." Encyclopedia. Web. 23 December, 2020.
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Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders.
genetic conditions
References
- Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16[updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK26471/
- Milone M, Massie R. Polymerase gamma 1 mutations: clinical correlations.Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Review.
- Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, SchonEA, DiMauro S. mtDNA depletion with variable tissue expression: a novel geneticabnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3):492-501.
- Rocher C, Taanman JW, Pierron D, Faustin B, Benard G, Rossignol R, Malgat M,Pedespan L, Letellier T. Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008Apr;40(2):59-67. doi: 10.1007/s10863-008-9130-5.
- Stumpf JD, Copeland WC. Mitochondrial DNA replication and disease: insightsfrom DNA polymerase γ mutations. Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi:10.1007/s00018-010-0530-4.
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