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Article

Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.

Journal of human genetics - 1 May 2026

Yuan Jun-Hui, Higuchi Yujiro, Ando Masahiro, Hashiguchi Akihiro, Okamoto Yuji, Hiramatsu Yu, Yoshimura Akiko, Kodama Kento, Sakiyama Yusuke, Mitsui Jun, Tsuji Shoji, Takashima Hiroshi

Abstract excerpt

Myopathy, lactic acidosis, and sideroblastic anemia type 1 (MLASA1) is an extremely rare mitochondrial disorder caused by biallelic pathogenic variants in PUS1, which encodes a mitochondrial tRNA pseudouridine synthase essential for mitochondrial protein synthesis. We describe two affected siblings presenting with progressive myopathy, lactic acidosis, sideroblastic anemia, short stature, developmental delay, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41361485
DOI: 10.1038/s10038-025-01437-8

Genes

PUS1
NDUFB8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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