Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

Mutations in the ALS2 gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis. We present a review of the literature and the case of a 16-year-old boy who is, to the bes...

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Detalles Bibliográficos
Autores principales: Flor-de-Lima, Filipa, Sampaio, Mafalda, Nahavandi, Nahid, Fernandes, Susana, Leão, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180207/
https://www.ncbi.nlm.nih.gov/pubmed/25302125
http://dx.doi.org/10.1155/2014/691515

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180207/
https://www.ncbi.nlm.nih.gov/pubmed/25302125
http://dx.doi.org/10.1155/2014/691515

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