Clinical, Pathological and Mutational Spectrum of Dystroglycanopathy Due to LARGE Mutations

Dystroglycanopathies are a subtype of congenital muscular dystrophy (CMD) of varying severity that can affect the brain and eyes, ranging from Walker-Warburg syndrome with severe brain malformation to milder CMD presentations with affected or normal cognition and later onset. Mutations in dystroglyc...

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Detalhes bibliográficos
Publicado no:J Neuropathol Exp Neurol
Main Authors: Meilleur, Katherine G., Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L., Alsaman, Abdulaziz, El-Hattab, Ayman W., Dastgir, Jahannaz, Hu, Ying, Donkervoort, Sandra, Golden, Jeffrey A., Eagle, Ralph, Finkel, Richard, Scavina, Mena, Hood, Ian C., Rorke-Adams, Lucy B., Bönnemann, Carsten G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5113964/
https://ncbi.nlm.nih.gov/pubmed/24709677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0000000000000065
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