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Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome, caused by mutations in the thymidine phosphorylase gene, manifests as a multisystemic disorder characterized by severe gastrointestinal dysmotility, cachexia, ptosis and ophthalmoparesis, peripheral neuropathy, and leukoencephal...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6613405/ https://www.ncbi.nlm.nih.gov/pubmed/31359948 http://dx.doi.org/10.4103/aian.AIAN_34_18 |