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Very severe spinal muscular atrophy (Type 0)

This case report describes a rare phenotype of very severe spinal muscular atrophy (SMA) in a newborn who presented with reduced fetal movements in utero and significant respiratory distress at birth. The patient was homozygously deleted for exon 7 and exon 8 of the survival motor neuron gene 1. Ver...

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Detalles Bibliográficos
Autor principal: Al Dakhoul, Suleiman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255980/
https://www.ncbi.nlm.nih.gov/pubmed/28182029
http://dx.doi.org/10.4103/2231-0770.197512