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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...
Zapisane w:
| Wydane w: | Neuromuscul Disord |
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| Główni autorzy: | , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Pergamon Press
2018
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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