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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

3 Sept 2023

Abstract excerpt

Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA). Variants in FTH1 have not been previously associated with neurologic disease. We describe the clinical, neuroimaging, and neuropathology findings of five...

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PMID: 37660254
DOI: 10.1016/j.xhgg.2023.100236

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