SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA

Proximal spinal muscular atrophy (SMA) is the most frequent cause of hereditary infant mortality. SMA is an autosomal recessive neuromuscular disorder that results from the loss of the Survival Motor Neuron 1 (SMN1) gene and retention of the SMN2 gene. The SMN2 gene produces an insufficient amount o...

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Publicat a:Hum Mol Genet
Autors principals: McGovern, Vicki L., Iyer, Chitra C., Arnold, W. David, Gombash, Sara E., Zaworski, Phillip G., Blatnik, Anton J., Foust, Kevin D., Burghes, Arthur H.M.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2015
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4572068/
https://ncbi.nlm.nih.gov/pubmed/26206889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv283
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