期刊
NEUROMUSCULAR DISORDERS
卷 23, 期 6, 页码 461-468出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2013.03.002
关键词
Spinal muscular atrophy with respiratory distress type 1; SMARD1; DSMA1; IGHMBP2
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 p.-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. (C) 2013 Elsevier B.V. All rights reserved.
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