Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases

Proximal spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide, is an early-onset, autosomal recessive neurodegenerative disease characterized by the loss of spinal α-motor neurons. This loss of α-motor neurons is associated with muscle weakness and atrophy. SMA can be cla...

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Bibliographic Details
Main Author: Matthew E R Butchbach
Format: Article
Language:English
Published: Frontiers Media S.A. 2016-03-01
Series:Frontiers in Molecular Biosciences
Subjects:
Online Access:http://journal.frontiersin.org/Journal/10.3389/fmolb.2016.00007/full