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The FVB-nmd SMARD1 mouse presents with early respiratory deficits and pathology that significantly impact lifespan.

Human molecular genetics - 26 Jun 2026

Muchow Roxanne, Woolridge Michelle, Smith Catherine L, Llorente Torres Francisco J, Perez-Lopez Dennis, Nichols Nicole L, Lorson Christian L, Lorson Monique A

Abstract excerpt

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare, inherited genetic disease caused by mutations in the immunoglobulin mu binding protein (IGHMBP2) gene that result in spinal muscular atrophy with respiratory distress (SMARD1) or Charcot-Marie-Tooth Type 2S (CMT2S). SMARD1 clinical symptoms include respiratory failure, progressive muscular weakness, feeding deficiencies, and sensory and...

Topics

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Charcot-Marie-Tooth Disease
Disease Models, Animal
DNA-Binding Proteins
Longevity
Muscular Atrophy, Spinal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neuromuscular Junction

Respiratory Distress Syndrome, Newborn

Respiratory Insufficiency

Source

Identifiers

PMID: 42398093
DOI: 10.1093/hmg/ddag056

Genes

IGHMBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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