Cargando…

Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care

Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle weakness. The spectrum of disease severity ranges from early onset with respiratory failure during the first months of life to a mild, adult-onset type wit...

Descripción completa

Detalles Bibliográficos
Autores principales: Schorling, David C., Pechmann, Astrid, Kirschner, Janbernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029319/
https://www.ncbi.nlm.nih.gov/pubmed/31707373
http://dx.doi.org/10.3233/JND-190424