A 3'-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathy.

Abstract excerpt

Mutations in the gene for the ferritin light chain (FTL) often present with hypoferritinemia associated with progressive, late onset extrapyramidal dysfunction. However, it has been suggested that some FTL mutations may impact ferritin levels without any neurological manifestations. We report on a FTL mutation in a three generation family with autosomal dominant hypoferritinemia without neurodegeneration. The 4...

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