What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective

What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective

Proximal spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by motor neuron loss and subsequent atrophy of skeletal muscle. SMA is caused by deficiency of the essential <i>survival motor neuron</i> (SMN) protein, canonically responsible for t...

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Bibliographic Details
Main Authors: Anton J. Blatnik, Vicki L. McGovern, Arthur H. M. Burghes
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:International Journal of Molecular Sciences
Subjects:
SMA
spinal muscular atrophy
genetics
biochemistry
SMN function
SMN missense mutants
Online Access:https://www.mdpi.com/1422-0067/22/16/8494

Internet

https://www.mdpi.com/1422-0067/22/16/8494

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