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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書誌詳細
出版年:Am J Hum Genet
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2015
主題:
Report
オンライン･アクセス: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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