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Article

Growing up with spinal muscular atrophy with respiratory distress (SMARD1).

Neuromuscular disorders : NMD - 1 Feb 2015

Hamilton Mark James, Longman Cheryl, O'Hara Ann, Kirkpatrick Martin, McWilliam Robert

Abstract excerpt

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited neuromuscular condition resulting from recessive mutations in the immunoglobulin mu-binding protein (IGHMBP2) gene. Affected individuals characteristically present in infancy with progressive distal weakness and respiratory distress secondary to diaphragmatic weakness. Considerable clinical heterogeneity has been described both in...

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Source

Identifiers

PMID: 25454169
DOI: 10.1016/j.nmd.2014.10.005

Genes

IGHMBP2

Provenance

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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