Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12031-020-01765-8.pdf
Reference28 articles.
1. Ashley N, O’Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown et al (2008) Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Hum Mol Genet 17(16):2496–2506
2. Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR et al (2002) Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59(9):1406–1411
3. Bindu PS, Arvinda H, Taly AB, Govindaraju C, Sonam K, Chiplunkar S, Kumar R et al (2015) Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India. Mitochondrion 25:6–16
4. Blazquez-Bermejo C, Carreno-Gago L, Molina-Granada D, Aguirre J, Ramon J, Torres-Torronteras J, Cabrera-Perez R et al (2019) Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts. FASEB J 33(6):7168–7179
5. Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E et al (2009) The unfolding clinical spectrum of POLG mutations. J Med Genet 46(11):776–785
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