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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P. Habarou F, et al. Among authors: feichtinger rg. Am J Hum Genet. 2017 Aug 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27. Am J Hum Genet. 2017. PMID: 28757203 Free PMC article.
Loss of mitochondria in ganglioneuromas.
Feichtinger RG, Neureiter D, Mayr JA, Zimmermann FA, Berthold F, Jones N, Sperl W, Kofler B. Feichtinger RG, et al. Front Biosci (Elite Ed). 2011 Jan 1;3(1):179-86. doi: 10.2741/e231. Front Biosci (Elite Ed). 2011. PMID: 21196296 Free article.
114 results