Article
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
American journal of human genetics - 1 Mar 2018
Lassuthova Petra, Rebelo Adriana P, Ravenscroft Gianina, Lamont Phillipa J, Davis Mark R, Manganelli Fiore, Feely Shawna M, Bacon Chelsea, Brožková Dana Šafka, Haberlova Jana, Mazanec Radim, Tao Feifei, Saghira Cima, Abreu Lisa, Courel Steve, Powell Eric, Buglo Elena, Bis Dana M, Baxter Megan F, Ong Royston W, Marns Lorna, Lee Yi-Chung, Bai Yunhong, Isom Daniel G, Barro-Soria René, Chung Ki W, Scherer Steven S, Larsson H Peter, Laing Nigel G, Choi Byung-Ok, Seeman Pavel, Shy Michael E, Santoro Lucio, Zuchner Stephan
Abstract excerpt
Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more than 50% of affected individuals. The discovery of additional genes that harbor CMT2-causing mutations increasingly depends on sharing sequence data on a global level. In this way-by combining data from seven countries on four continents-we were able to define mutations in ATP1A1, which...
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