MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

BACKGROUND: Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial intermediate presequence protease MIP/Oct1, which carries out precursor proces...

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Main Authors: Eldomery, Mohammad K., Akdemir, Zeynep C., Vögtle, F.-Nora, Charng, Wu-Lin, Mulica, Patrycja, Rosenfeld, Jill A., Gambin, Tomasz, Gu, Shen, Burrage, Lindsay C., Al Shamsi, Aisha, Penney, Samantha, Jhangiani, Shalini N., Zimmerman, Holly H., Muzny, Donna M., Wang, Xia, Tang, Jia, Medikonda, Ravi, Ramachandran, Prasanna V., Wong, Lee-Jun, Boerwinkle, Eric, Gibbs, Richard A., Eng, Christine M., Lalani, Seema R., Hertecant, Jozef, Rodenburg, Richard J., Abdul-Rahman, Omar A., Yang, Yaping, Xia, Fan, Wang, Meng C., Lupski, James R., Meisinger, Chris, Sutton, V. Reid
Format: Text
Language:English
Published: BioMed Central 2016
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Research
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC5088683/
https://pubmed.ncbi.nlm.nih.gov/27799064
http://dx.doi.org/10.1186/s13073-016-0360-6
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https://pmc.ncbi.nlm.nih.gov/articles/PMC5088683/
https://pubmed.ncbi.nlm.nih.gov/27799064
http://dx.doi.org/10.1186/s13073-016-0360-6

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