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

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 p...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256290/
https://www.ncbi.nlm.nih.gov/pubmed/25474699
http://dx.doi.org/10.1371/journal.pone.0113258

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