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Variable Age at Onset in AOPEP‐Associated Dystonia
With great interest, we read the letter of Menden et al1 reporting their findings on bi-allelic loss-of-function AOPEP variants. Following a statement of hesitance to publish their data because of a homozygous stop variant (c.703C > T, p.(Gln235*)) in a reported healthy 35-year-old male, we present a patient carrying the identical homozygous variant with severe symptoms matching AOPEP-associated dystonia.
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