Article
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
American journal of human genetics - 5 Sept 2013
Bonnen Penelope E, Yarham John W, Besse Arnaud, Wu Ping, Faqeih Eissa A, Al-Asmari Ali Mohammad, Saleh Mohammad A M, Eyaid Wafaa, Hadeel Alrukban, He Langping, Smith Frances, Yau Shu, Simcox Eve M, Miwa Satomi, Donti Taraka, Abu-Amero Khaled K, Wong Lee-Jun, Craigen William J, Graham Brett H, Scott Kenneth L, McFarland Robert, Taylor Robert W
Abstract excerpt
Nuclear genetic disorders causing mitochondrial DNA (mtDNA) depletion are clinically and genetically heterogeneous, and the molecular etiology remains undiagnosed in the majority of cases. Through whole-exome sequencing, we identified recessive nonsense and splicing mutations in FBXL4 segregating in three unrelated consanguineous kindreds in which affected children present with a fatal encephalopathy, lactic...
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