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

doi:10.1186/s13073-016-0360-6

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Article

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

Genome medicine - 1 Nov 2016

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

Abstract excerpt

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 processing, has not yet been established to have a role in human disease. METHODS: Whole exome sequencing was performed on...

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Identifiers

PMID: 27799064
DOI: 10.1186/s13073-016-0360-6
PMCID: PMC5088683

Genes

MIP
MIPEP

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Source receipt: pubmed, retrieved 7 Sept 2026.

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