Heterozygous Loss-of-function Variants in SPTAN1 Cause an Early Childhood Onset Distal Myopathy.
Jonathan De Winter,Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli,Arnaud Isapof,Enzo Cohen,Tanya Stojkovic,Peter Hackman,Mridul Johari,Johanna Palmio,Megan A Waldrop,Alayne P Meyer,Stefan Nicolau,Kevin M Flanigan,Ana Töpf,Jordi Diaz-Manera,Volker Straub,Cheryl Longman, Catherine A McWilliam,Rotem Orbach,Sumit Verma, Regina Laine,Sandra Donkervoort,Carsten G Bonnemann,Adriana Rebelo,Stephan Züchner,Tiffany Grider,Michael E Shy,Isabelle Maystadt,Florence Demurger,Anita Cairns, Sarah Beecroft,Chiara Folland, Willem De Ridder,Gina Ravenscroft,Gisèle Bonne,Bjarne Udd,Jonathan Baets Genetics in medicine official journal of the American College of Medical Genetics（2025）
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