Ontology highlight
ABSTRACT:
SUBMITTER: Lassuthova P
PROVIDER: S-EPMC5985288 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Lassuthova Petra P Rebelo Adriana P AP Ravenscroft Gianina G Lamont Phillipa J PJ Davis Mark R MR Manganelli Fiore F Feely Shawna M SM Bacon Chelsea C Brožková Dana Šafka DŠ Haberlova Jana J Mazanec Radim R Tao Feifei F Saghira Cima C Abreu Lisa L Courel Steve S Powell Eric E Buglo Elena E Bis Dana M DM Baxter Megan F MF Ong Royston W RW Marns Lorna L Lee Yi-Chung YC Bai Yunhong Y Isom Daniel G DG Barro-Soria René R Chung Ki W KW Scherer Steven S SS Larsson H Peter HP Laing Nigel G NG Choi Byung-Ok BO Seeman Pavel P Shy Michael E ME Santoro Lucio L Zuchner Stephan S
American journal of human genetics 20180301 3
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 encodes the alpha1 subunit of the Na<sup>+</sup>,K<sup>+</sup>-ATPase, as a cause of au ...[more]