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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Sonraí Bibleagrafaíochta
Main Authors: Renbaum, Paul, Kellerman, Efrat, Jaron, Ranit, Geiger, Dan, Segel, Reeval, Lee, Ming, King, Mary Claire, Levy-Lahad, Ephrat
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2009
Ábhair:
Report
Rochtain Ar Líne: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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