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Article

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.

American journal of medical genetics. Part A - 1 Feb 2025

Yeole Mayuri, Majethia Purvi, Siddiqui Shahyan, Girisha Katta Mohan, Shukla Anju, Radhakrishnan Periyasamy, Bhat Vivekananda

Abstract excerpt

Translocase of the outer mitochondrial membrane (TOMM) complex plays an important role in the transport of proteins from the cytoplasm into the mitochondria. TOMM7, one of the subunits of the TOMM complex, modulates its assembly and stability. Bi-allelic disease-causing variants in TOMM7 (MIM* 607980) have been previously reported in two unrelated families with a diverse phenotype of short stature, lipodystrophy,...

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Identifiers

PMID: 39333057
DOI: 10.1002/ajmg.a.63892
PMCID: PMC7617585

Genes

TOMM7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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