Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Mutations in genes encoding aminoacyl-tRNA synthetases are known to cause leukodystrophies and genetic leukoencephalopathies—heritable disorders that result in white matter abnormalities in the central nervous system. Here we report three individuals (two siblings and an unrelated individual) with s...

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Publicado no:Am J Hum Genet
Main Authors: Simons, Cas, Griffin, Laurie B., Helman, Guy, Golas, Gretchen, Pizzino, Amy, Bloom, Miriam, Murphy, Jennifer L.P., Crawford, Joanna, Evans, Sarah H., Topper, Scott, Whitehead, Matthew T., Schreiber, John M., Chapman, Kimberly A., Tifft, Cyndi, Lu, Katrina B., Gamper, Howard, Shigematsu, Megumi, Taft, Ryan J., Antonellis, Anthony, Hou, Ya-Ming, Vanderver, Adeline
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4385183/
https://ncbi.nlm.nih.gov/pubmed/25817015
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.02.012
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