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Article

Mutation of gene in spinal muscular atrophy respiratory distress type I.

Pediatric neurology - 1 Jun 2006

Wong Virginia C N, Chung Brian H Y, Li Susanna, Goh Winnie, Lee So Lun

Abstract excerpt

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...

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Source

Identifiers

PMID: 16765827
DOI: 10.1016/j.pediatrneurol.2005.10.022

Genes

IGHMBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.Semantic proximity Read ↗

Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene.Semantic proximity Read ↗

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.Semantic proximity Read ↗

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Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1Semantic proximity Read ↗

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One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.Semantic proximity Read ↗

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