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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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Thieme Medical and Scientific Publishers Pvt. Ltd.
2017
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/38b1804ae8ca40e685703923b656ea11 |
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