PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

Phospholipase A2 associated neurodegeneration (PLAN) is a major phenotype of autosomal recessive Neurodegeneration with Brain Iron Accumulation (NBIA). We describe the clinical phenotypes, neuroimaging features and PLA2G6 mutations in 5 children, of whom 4 presented with infantile neuroaxonal dystro...

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書誌詳細
主要な著者: Illingworth, M.A., Meyer, E., Chong, W.K., Manzur, A.Y., Carr, L.J., Younis, R., Hardy, C., McDonald, F., Childs, A.M., Stewart, B., Warren, D., Kneen, R., King, M.D., Hayflick, S.J., Kurian, M.A.
フォーマット: Artigo
言語:Inglês
出版事項: Academic Press 2014
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4048546/
https://ncbi.nlm.nih.gov/pubmed/24745848
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.03.008
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