Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP). It is clinically characterized by severe gastrointestinal dysmotility, cachexia, palpebral ptosis, ophthalmoparesis, sensori...

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Detalles Bibliográficos
Autores principales: Falcão de Campos, Catarina, Oliveira Santos, Miguel, Roque, Rafael, Conceição, Isabel, de Carvalho, Mamede
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927060/
https://www.ncbi.nlm.nih.gov/pubmed/31885962
http://dx.doi.org/10.1155/2019/5976410

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