Article
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.
PloS one - 1 Jan 2014
Siddiqi Saima, Foo Jia Nee, Vu Anthony, Azim Saad, Silver David L, Mansoor Atika, Tay Stacey Kiat Hong, Abbasi Sumiya, Hashmi Asraf Hussain, Janjua Jamal, Khalid Sumbal, Tai E Shyong, Yeo Gene W, Khor Chiea Chuen
Abstract excerpt
The diagnosis of childhood neurological disorders remains challenging given the overlapping clinical presentation across subgroups and heterogeneous presentation within subgroups. To determine the underlying genetic cause of a severe neurological disorder in a large consanguineous Pakistani family presenting with severe scoliosis, anarthria and progressive neuromuscular degeneration, we performed genome-wide...
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