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Article

Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1.

Human molecular genetics - 7 Oct 2024

Holbrook Sarah E, Hicks Amy N, Martin Paige B, Hines Timothy J, Castro Harold P, Cox Gregory A

Abstract excerpt

Spinal Muscular Atrophy with Respiratory Distress (SMARD1) is a lethal infantile disease, characterized by the loss of motor neurons leading to muscular atrophy, diaphragmatic paralysis, and weakness in the trunk and limbs. Mutations in IGHMBP2, a ubiquitously expressed DNA/RNA helicase, have been shown to cause a wide spectrum of motor neuron disease. Though mutations in IGHMBP2 are mostly associated with...

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Identifiers

PMID: 39128026
DOI: 10.1093/hmg/ddae116
PMCID: PMC11457999

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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