Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). In humans, a nearly identical copy...

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Detalles Bibliográficos
Publicado en:J Neuromuscul Dis
Main Authors: Glascock, Jacqueline, Sampson, Jacinda, Haidet-Phillips, Amanda, Connolly, Anne, Darras, Basil, Day, John, Finkel, Richard, Howell, R. Rodney, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Shieh, Perry B., Crawford, Thomas O., Kerr, Douglas, Jarecki, Jill
Formato: Artigo
Idioma:Inglês
Publicado: IOS Press 2018
Assuntos:
Research Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6004919/
https://ncbi.nlm.nih.gov/pubmed/29614695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-180304
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