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Repeat expansions with small TTTCA insertions in MARCHF6 cause familial myoclonus without epilepsy

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Authors: Theresa Kühnel PhD, Elsa Leitão PhD, Renate Lunzer MD, PhD, Fabian Kilpert PhD, Sabine Kaya MS, Claudia Del Gamba MD, Kelly Astudillo MD, Steven Frucht MD, MD, Marion Simonetta-Moreau MD, PhD, Eric Bieth MD, PhD, Iris Unterberger MD, Giulietta Maria Riboldi MD, PhD, Christel Depienne PhD
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  • Published on: April 9 2025
  • Source: Movement Disorders

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