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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Enregistré dans:
Détails bibliographiques
Publié dans:Case Rep Neurol Med
Auteurs principaux: Falcão de Campos, Catarina, Oliveira Santos, Miguel, Roque, Rafael, Conceição, Isabel, de Carvalho, Mamede
Format: Artigo
Langue:Inglês
Publié: Hindawi 2019
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6927060/
https://ncbi.nlm.nih.gov/pubmed/31885962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/5976410
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