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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Detalles Bibliográficos
Autores principales: Pogoryelova, Oksana, Cammish, Phillip, Mansbach, Hank, Argov, Zohar, Nishino, Ichizo, Skrinar, Alison, Chan, Yiumo, Nafissi, Shahriar, Shamshiri, Hosein, Kakkis, Emil, Lochmüller, Hanns
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857291/
https://www.ncbi.nlm.nih.gov/pubmed/29305133
http://dx.doi.org/10.1016/j.nmd.2017.11.001

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