Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

The spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of disorders characterized by degeneration and loss of anterior horn cells in the spinal cord, leading to muscle weakness and atrophy. Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH, also know...

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Hlavní autoři: Renbaum, Paul, Kellerman, Efrat, Jaron, Ranit, Geiger, Dan, Segel, Reeval, Lee, Ming, King, Mary Claire, Levy-Lahad, Ephrat
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2725266/
https://ncbi.nlm.nih.gov/pubmed/19646678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.07.006
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