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Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

✍ 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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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