Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands
β Scribed by Stalpers, Xenia L.; Verrips, Aad; Poll-The, Bwee Tien; Cobben, Jan-Maarten; Snoeck, Irina N.; de Coo, Irenaeus F.M.; Brooks, Alice; Bulk, Saskia; Gooskens, Rob; Fock, Annemarie; Verschuuren-Bemelmans, Corien; Sinke, Richard J.; de Visser, Marianne; Lemmink, Henny H.
- Book ID
- 122995281
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 237 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0960-8966
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## Abstract Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobulin ΞΌβbinding protein 2 (__IGHMBP2__)
Autosomal recessive spinal muscular atrophy with respiratory distress (SMARD) is a heterogeneous disorder. Mutations in the immunoglobulin micro-binding protein gene (IGHMBP2) lead to SMARD1, but clinical criteria that delineate SMARD1 from other SMARD syndromes are not well established. Here we pre