| Literature DB >> 23566544 |
Xenia L Stalpers1, Aad Verrips, Bwee Tien Poll-The, Jan-Maarten Cobben, Irina N Snoeck, Irenaeus F M de Coo, Alice Brooks, Saskia Bulk, Rob Gooskens, Annemarie Fock, Corien Verschuuren-Bemelmans, Richard J Sinke, Marianne de Visser, Henny H Lemmink.
Abstract
Spinal muscular atrophy with respiratory distress type 1 is an autosomal recessive disorder with early respiratory difficulties, distal muscle weakness, and contractures leading to foot deformities as the most striking clinical symptoms. Mutations of the gene encoding the immunoglobulin heavy chain μ-binding protein 2, mapped on chromosome 11q13, are the cause of the disease. We present the clinical and mutational characteristics of ten patients in the Netherlands who showed considerable clinical variability; they carried six novel mutations, including a deletion of exon 2. However, there were no clear phenotype-genotype correlations.Entities:
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Year: 2013 PMID： 23566544 DOI： 10.1016/j.nmd.2013.03.002
Source DB: PubMed Journal: Neuromuscul Disord ISSN： 0960-8966 Impact factor: 4.296