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  • Title: Mutation of gene in spinal muscular atrophy respiratory distress type I.
    Author: Wong VC, Chung BH, Li S, Goh W, Lee SL.
    Journal: Pediatr Neurol; 2006 Jun; 34(6):474-7. PubMed ID: 16765827.
    Abstract:
    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.
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