Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

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 sequencin...

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Veröffentlicht in:	American journal of human genetics 2016-07, Vol.99 (1), p.217-227
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age of Onset Alleles Amino Acid Sequence Child Electron Transport Complex I - deficiency Electron Transport Complex I - genetics Female Genes Genetics Genotype & phenotype Humans Infant Male Membrane Proteins - chemistry Membrane Proteins - genetics Middle Aged Mitochondrial Diseases - genetics Mutation Mutation - genetics Pedigree Phenotype Proteins Young Adult
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