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Article

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)-A Novel Cause of Premature Ovarian Insufficiency.

Clinical genetics - 1 Apr 2026

Matheou Michael, Turner Helen, Shears Deborah, Karpe Fredrik

Abstract excerpt

Mitochondrial DNA depletion syndrome 1 (MTDPS1) is a rare autosomal recessive disorder caused by mutations in the TYMP gene, leading to mitochondrial failure. Hallmark features include gastrointestinal dysmotility, cachexia, peripheral neuropathy, ocular signs, hearing loss, and leukoencephalopathy. We present a 39-year-old woman with premature ovarian insufficiency (POI) as a novel endocrine manifestation of...

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Identifiers

PMID: 41163431
DOI: 10.1111/cge.70100

Genes

TYMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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