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Article

A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes.

Clinical genetics - 1 Dec 2023

Peifer-Weiß Leon, Kurban Mazen, David Céline, Lubeck Melissa, Kondadi Arun Kumar, Nemer Georges, Reichert Andreas S, Anand Ruchika

Abstract excerpt

APOO/MIC26 is a subunit of the MICOS complex required for mitochondrial cristae morphology and function. Here, we report a novel variant of the APOO/MIC26 gene that causes a severe mitochondrial disease with overall progeria-like phenotypes in two patients. Both patients developed partial agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, and severe immune deficiencies. The patients...

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Identifiers

PMID: 37649161
DOI: 10.1111/cge.14420

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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