A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.

by Saima Siddiqi, Jia Nee Foo, Anthony Vu, Saad Azim, David L Silver, Atika Mansoor, Stacey Kiat Hong Tay, Sumiya Abbasi, Asraf Hussain Hashmi, Jamal Janjua, Sumbal Khalid, E Shyong Tai, Gene W Yeo, Chiea Chuen Khor
Published 2014-01-01