Genomic Variability in the Survival Motor Neuron Genes (<i>SMN1</i> and <i>SMN2</i>): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development

Genomic Variability in the Survival Motor Neuron Genes (<i>SMN1</i> and <i>SMN2</i>): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development

Spinal muscular atrophy (SMA) is a leading genetic cause of infant death worldwide that is characterized by loss of spinal motor neurons leading to muscle weakness and atrophy. SMA results from the loss of <i>survival motor neuron 1</i> (<i>SMN1</i>) gene but retention of its...

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Bibliographic Details
Main Author: Matthew E. R. Butchbach
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:International Journal of Molecular Sciences
Subjects:
spinal muscular atrophy
copy number variation
<i>SMN1</i>
<i>SMN2</i>
modifier gene
precision medicine
Online Access:https://www.mdpi.com/1422-0067/22/15/7896

Internet

https://www.mdpi.com/1422-0067/22/15/7896

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