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Article

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

Human molecular genetics - 3 Jun 2020

Dutta Debdeep, Briere Lauren C, Kanca Oguz, Marcogliese Paul C, Walker Melissa A, High Frances A, Vanderver Adeline, Krier Joel, Carmichael Nikkola, Callahan Christine, Taft Ryan J, Simons Cas, Helman Guy, Network Undiagnosed Diseases, Wangler Michael F, Yamamoto Shinya, Sweetser David A, Bellen Hugo J

Abstract excerpt

The translocase of outer mitochondrial membrane (TOMM) complex is the entry gate for virtually all mitochondrial proteins and is essential to build the mitochondrial proteome. TOMM70 is a receptor that assists mainly in mitochondrial protein import. Here, we report two individuals with de novo variants in the C-terminal region of TOMM70. While both individuals exhibited shared symptoms including hypotonia,...

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Identifiers

PMID: 32356556
DOI: 10.1093/hmg/ddaa081
PMCID: PMC7268787

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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