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Cardiac pathology in spinal muscular atrophy: a systematic review

BACKGROUND: Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual...

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Detalles Bibliográficos
Autores principales: Wijngaarde, C. A., Blank, A. C., Stam, M., Wadman, R. I., van den Berg, L. H., van der Pol, W. L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387385/
https://www.ncbi.nlm.nih.gov/pubmed/28399889
http://dx.doi.org/10.1186/s13023-017-0613-5