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Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse

18 Dec 2024

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by low levels of the survival motor neuron (SMN) protein. Even though SMN is ubiquitously expressed, the disease selectively affects motor neurons, leading to progressive muscle weakness. Even among motor neurons, certain motor units appear more clinically resistant to SMA. To quantitatively survey selective resistance, we studied extensive neuromuscular autopsies of Type I...

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PMID: 39690843
DOI: 10.1093/hmg/ddae190

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