Isolated Mitochondrial Complex Deficiencies
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-030-67727-5_44
Reference207 articles.
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2. Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD. Infantile cardioencephalopathy due to a COX15 gene defect: report and review. Am J Med Genet. 2011;155A:840–4.
3. Alston CL, Morak M, Reid C, Hargreaves IP, Pope SA, Land JM, Heales SJ, Horvath R, Mundy H, Taylor RW. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy. Neuromuscul Disord. 2010;20(2):131–5.
4. Alston CL, Compton AG, Formosa LE, Strecker V, Olahova M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, et al. Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. Am J Hum Genet. 2016;99:217–27.
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