An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

Aurélien Trimouille,Émilie Obre,Guillaume Banneau,Alexandra Durr,Giovanni Stevanin,Fabienne Clot,Perrine Pennamen, Jean-Thomas Perez, Clémence Bailly-Scappaticci,Marie Rouanet,Claire Delleci,Guilhem Sole,Stéphane Mathis,Cyril Goizet

Clinical neurology and neurosurgery（2018）

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摘要

•We report a new family with 3 members affected with a non-progressive form of SMALED2.•The patients harbor the first described inframe deletion in BICD2: p.Lys508del.•The variants p.Lys508del and p.Lys508Thr lead to different phenotypes.

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