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

Xenia L. Stalpers, 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

Research output: Contribution to journalArticleAcademicpeer-review

18 Citations (Scopus)

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
Original languageEnglish
Pages (from-to)461-468
JournalNeuromuscular disorders
Volume23
Issue number6
DOIs
Publication statusPublished - 2013

Cite this