Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

GNE myopathy is a rare distal myopathy, caused by mutations in the GNE gene, affecting sialic acid synthesis. Clinical presentation varies from asymptomatic early stage patients to severely debilitating forms. This first report describes clinical presentations and severity of the disease, using data...

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Detalhes bibliográficos
Publicado no:Neuromuscul Disord
Main Authors: Pogoryelova, Oksana, Cammish, Phillip, Mansbach, Hank, Argov, Zohar, Nishino, Ichizo, Skrinar, Alison, Chan, Yiumo, Nafissi, Shahriar, Shamshiri, Hosein, Kakkis, Emil, Lochmüller, Hanns
Formato: Artigo
Idioma:Inglês
Publicado em: Pergamon Press 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5857291/
https://ncbi.nlm.nih.gov/pubmed/29305133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2017.11.001
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