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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...

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Detalhes bibliográficos
Publicado no:J Neuromuscul Dis
Main Authors: Schorling, David C., Pechmann, Astrid, Kirschner, Janbernd
Formato: Artigo
Idioma:Inglês
Publicado em: IOS Press 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7029319/
https://ncbi.nlm.nih.gov/pubmed/31707373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-190424
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