Journal
PEDIATRIC NEUROLOGY
Volume 34, Issue 6, Pages 474-477Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2005.10.022
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Spinal muscular atrophy with respiratory distress type I (SMARD1, MIM #604 320) is an uncommon variant of infantile spinal muscular atrophy type I. Distinguishing features include diaphragmatic palsy, early-onset distal limb wasting, and contracture. This report describes a Chinese male with typical features of spinal muscular atrophy with respiratory distress type I. Direct sequencing of the causative gene, the immunoglobulin mu-binding protein 2 (IGHMBP2) gene, revealed the presence of a novel frameshift mutation caused by deletion of G in exon 13 and a single base pair substitution of G to A in exon 12 resulting in substitution of isoleucine for valine. (c) 2006 by Elsevier Inc. All rights reserved.
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