Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.

Julius Rönkkö,Svetlana Molchanova,Anya Revah-Politi,Elaine M Pereira,Mari Auranen,Jussi Toppila,Jouni Kvist,Anastasia Ludwig,Julika Neumann,Geert Bultynck,Stéphanie Humblet-Baron,Adrian Liston,Anders Paetau,Claudio Rivera,Matthew B Harms,Henna Tyynismaa,Emil Ylikallio

NEUROMUSCULAR DISORDERS（2020）

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摘要

Together with two previously identified variants, our report adds further evidence that ITPR3 is a disease-causing gene for CMT and indicates altered Ca homeostasis in disease pathogenesis.

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