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Article

Interfamilial phenotypic heterogeneity in SMARD1.

Neuromuscular disorders : NMD - 1 Mar 2009

Joseph S, Robb S A, Mohammed S, Lillis S, Simonds A, Manzur A Y, Walter S, Wraige E

Abstract excerpt

Spinal muscular atrophy with respiratory distress (SMARD1: mu-binding protein 2 gene mutation) is characterised by low birth weight, progressive distal limb weakness, diaphragmatic paralysis and subsequent respiratory failure manifesting before 13 months of age. Our case report illustrates marked phenotype variability in two siblings with an identical genetic mutation of SMARD1, one of whom died of fulminant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19157874
DOI: 10.1016/j.nmd.2008.11.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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