A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.
作者信息
Ahmad Ilyas, Khan Ayaz, Noor Ul Ayan Hafiza, Budde Birgit, Altmüller Janine, Korejo Asad Aslam, Nürnberg Gudrun, Thiele Holger, Tariq Muhmmad, Nürnberg Peter, Erdmann Jeanette
机构信息
Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
DZHK (German Research Center for Cardiovascular Research), Partner Site Hamburg/Lübeck/Kiel, 23562, Lübeck, Germany.
出版信息
J Hum Genet. 2023 Feb;68(2):107-109. doi: 10.1038/s10038-022-01085-2. Epub 2022 Oct 11.
Abstract
摘要
Zotero 插件