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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| Format: | Article |
| Language: | English |
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Thieme Medical and Scientific Publishers Pvt. Ltd.
2017-01-01
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| Series: | Avicenna Journal of Medicine |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.4103/2231-0770.197512 |