Novel mutation in the IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1: A case report
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Elsevier BV
Reference10 articles.
1. 190th ENMC international workshop: spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1:11-13 May 2012, Naarden, The Netherlands;Van der Pol;Neuromuscul. Disord.,2013
2. Spinal muscular atrophy with respiratory distress Type 1: a novel variant of IGHMBP2 gene;Saeed;Jcpsp-J Coll Physici,2021
3. Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells;JędrzejowskaM;Eur. J. Paediatr. Neurol.,2014
4. The ighmbp2 helicase structure reveals the molecular basis for disease－causing mutations in DMSA1;LimSC;Nucleic Acids Res.,2012
5. Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1);Perego;CMLS Cell. Mol. Life Sci.,2020
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