BARZEGAR, Mohammad and SHOARAN, Maryam and BONYADI, Mortaza (2010) Very Severe Spinal Muscular Atrophy (Type 0): A Report of Three Cases. Iranian Journal of Child Neurology, 4 (2). pp. 51-53.
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Abstract
We describe three patients with very severe Spinal Muscular Atrophy (SMA) presented with reduced fetal movement in utero, profound hypotonia, severe weakness and respiratory insufficiency at birth. In all infants, electrodiagnostic studies were compatible with a neurogenic pattern. In genetic studies, all cases had homozygous deletions of exons 7 and 8 of Survival Motor Neuron (SMN) and exon 5 of Neuronal Apoptosis Inhibitory Protein (NAIP) gene. SMA should be considered in the differential diagnosis of reduced fetal movement and respiratory insufficiency at birth.
Item Type: | Article |
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Subjects: | East India Archive > Medical Science |
Depositing User: | Unnamed user with email support@eastindiaarchive.com |
Date Deposited: | 24 Feb 2023 08:10 |
Last Modified: | 01 Jul 2024 13:28 |
URI: | http://ebooks.keeplibrary.com/id/eprint/197 |