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Article

The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.

Human molecular genetics - 22 Apr 2022

Smith Caley E, Lorson Monique A, Ricardez Hernandez Sara M, Al Rawi Zayd, Mao Jiude, Marquez Jose, Villalón Eric, Keilholz Amy N, Smith Catherine L, Garro-Kacher Mona O, Morcos Toni, Davis Daniel J, Bryda Elizabeth C, Nichols Nicole L, Lorson Christian L

Abstract excerpt

Spinal muscular atrophy with respiratory distress type I (SMARD1) is a neurodegenerative disease defined by respiratory distress, muscle atrophy and sensory and autonomic nervous system defects. SMARD1 is a result of mutations within the IGHMBP2 gene. We have generated six Ighmbp2 mouse models based on patient-derived mutations that result in SMARD1 and/or Charcot-Marie Tooth Type 2 (CMT2S). Here we describe the...

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Identifiers

PMID: 34726235
DOI: 10.1093/hmg/ddab317
PMCID: PMC9029233

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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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