ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia

OBJECTIVE: To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with generalized dystonia. METHODS: A combination of homozygosity mapping and whole-exome sequencing in the first family...

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Detalles Bibliográficos
Autores principales: Sheerin, Una-Marie, Schneider, Susanne A., Carr, Lucinda, Deuschl, Guenther, Hopfner, Franziska, Stamelou, Maria, Wood, Nicholas W., Bhatia, Kailash P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962990/
https://www.ncbi.nlm.nih.gov/pubmed/24562058
http://dx.doi.org/10.1212/WNL.0000000000000254

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962990/
https://www.ncbi.nlm.nih.gov/pubmed/24562058
http://dx.doi.org/10.1212/WNL.0000000000000254

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