Article
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
American journal of human genetics - 7 Jul 2016
Alston Charlotte L, Compton Alison G, Formosa Luke E, Strecker Valentina, Oláhová Monika, Haack Tobias B, Smet Joél, Stouffs Katrien, Diakumis Peter, Ciara Elżbieta, Cassiman David, Romain Nadine, Yarham John W, He Langping, De Paepe Boel, Vanlander Arnaud V, Seneca Sara, Feichtinger René G, Płoski Rafal, Rokicki Dariusz, Pronicka Ewa, Haller Ronald G, Van Hove Johan L K, Bahlo Melanie, Mayr Johannes A, Van Coster Rudy, Prokisch Holger, Wittig Ilka, Ryan Michael T, Thorburn David R, Taylor Robert W
Abstract excerpt
Complex I deficiency is the most common biochemical phenotype observed in individuals with mitochondrial disease. With 44 structural subunits and over 10 assembly factors, it is unsurprising that complex I deficiency is associated with clinical and genetic heterogeneity. Massively parallel sequencing (MPS) technologies including custom, targeted gene panels or unbiased whole-exome sequencing (WES) are hugely...
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