Article

Identification of a putative founder variant in SLC30A10 associated with hypermanganesemia with dystonia 1 in Iranian patients: a case series and literature review

2026-07-23

Abstract excerpt

Hypermanganesemia with dystonia 1 (HMNDYT1) is an rare autosomal recessive condition resulting from pathogenic variants in the SLC30A10 gene. The presence of biallelic variants in this gene results in systemic accumulation of manganese, which leads to dystonia, polycythemia, and liver dysfunction. We conducted clinical and genetic evaluations of seven affected individuals from six Iranian consanguineous families,...

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Literature Corpus work: fc697bac-674c-56f2-85e9-36ffb75c9f1a
DOI: 10.1186/s12920-026-02350-5

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