TUBB4A de novo mutations cause isolated hypomyelination

OBJECTIVE: We present a series of unrelated patients with isolated hypomyelination, with or without mild cerebellar atrophy, and de novo TUBB4A mutations. METHODS: Patients in 2 large institutional review board–approved leukodystrophy bioregistries at Children's National Medical Center and Mont...

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Detalhes bibliográficos
Main Authors: Pizzino, Amy, Pierson, Tyler Mark, Guo, Yiran, Helman, Guy, Fortini, Sebastian, Guerrero, Kether, Saitta, Sulagna, Murphy, Jennifer Louise Patrick, Padiath, Quasar, Xie, Yi, Hakonarson, Hakon, Xu, Xun, Funari, Tara, Fox, Michelle, Taft, Ryan J., van der Knaap, Marjo S., Bernard, Geneviève, Schiffmann, Raphael, Simons, Cas, Vanderver, Adeline
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4153852/
https://ncbi.nlm.nih.gov/pubmed/25085639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000754
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