Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors

Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder representing a continuous spectrum of muscular weakness ranging from compromised neonates to adults with minimal manifestations. Patients show homozygous absence or disease-causing variants of the SMN1 gene (−/− or 0/0) a...

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Detalles Bibliográficos
Autores principales: Serra-Juhe, Clara, Tizzano, Eduardo F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871529/
https://www.ncbi.nlm.nih.gov/pubmed/31053787
http://dx.doi.org/10.1038/s41431-019-0415-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871529/
https://www.ncbi.nlm.nih.gov/pubmed/31053787
http://dx.doi.org/10.1038/s41431-019-0415-4

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