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By Brooke Manor Endocrinology
https://www.readbyqxmd.com/read/24647030/congenital-lethal-motor-neuron-disease-with-a-novel-defect-in-ribosome-biogenesis
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Russell J Butterfield, Tamara J Stevenson, Lingyan Xing, Tara M Newcomb, Benjamin Nelson, Wenqi Zeng, Xiang Li, Hsiao-Mei Lu, Hong Lu, Kelly D Farwell Gonzalez, Jia-Perng Wei, Elizabeth C Chao, Thomas W Prior, Pamela J Snyder, Joshua L Bonkowsky, Kathryn J Swoboda
OBJECTIVE: We describe a novel congenital motor neuron disease with early demise due to respiratory insufficiency with clinical overlap with spinal muscular atrophy with respiratory distress (SMARD) type 1 but lacking a mutation in the IGHMBP2 gene. METHODS: Exome sequencing was used to identify a de novo mutation in the LAS1L gene in the proband. Pathogenicity of the mutation was validated using a zebrafish model by morpholino-mediated knockdown of las1l. RESULTS: We identified a de novo mutation in the X-linked LAS1L gene in the proband (p...
April 15, 2014: Neurology
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