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Article

QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation.

Journal of human genetics - 1 Jun 2018

Gödiker J, Grüneberg M, DuChesne I, Reunert J, Rust S, Westermann C, Wada Y, Classen G, Langhans C D, Schlingmann K P, Rodenburg R J, Pohlmann R, Marquardt T

Abstract excerpt

Seven subunits of the mitochondrial contact site and cristae junction (CJ) organizing system (MICOS) in humans have been recently described in function and structure. QIL1 (also named MIC13) is a small complex that is crucial for the maintenance and assembling of MICOS. A novel mutation of an essential splice site in the C19orf70 gene encoding QIL1 induces severe mitochondrial encephalopathy, hepatopathy and...

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PMID: 29618761
DOI: 10.1038/s10038-018-0442-y

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