{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:36:32Z","timestamp":1747190192872,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","license":[{"start":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T00:00:00Z","timestamp":1576022400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia (FCT)\/Minist\u00e9rio da Ci\u00eancia, Tecnologia e Ensino Superior","award":["UID\/BIM\/50005\/2019"],"award-info":[{"award-number":["UID\/BIM\/50005\/2019"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Neurological Medicine"],"published-print":{"date-parts":[[2019,12,11]]},"abstract":"<jats:p>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, sensorimotor polyneuropathy and leukoencephalopathy. The diagnosis is established by the presence of typical clinical and neuroimaging features, positive family history, and abnormal genetic test. A 19-year-old Cape Verdean patient with a history since childhood of recurrent episodes of nausea, vomiting, diarrhoea and painful abdominal distension associated with progressive motor disability with difficulty in climbing stairs and running and clumsiness with her hands. The diagnostic workup was suggestive of MNGIE. Genetic screening of the <jats:italic>TYMP<\/jats:italic> gene identified a novel mutation (c. 1283 G&gt;A). Patients with MNGIE have significant comorbidity and mortality, and they are frequently misdiagnosed. A better acknowledgment of this disorder is essential to permit an earlier diagnosis and to improve disease management.<\/jats:p>","DOI":"10.1155\/2019\/5976410","type":"journal-article","created":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T18:32:47Z","timestamp":1576089167000},"page":"1-4","source":"Crossref","is-referenced-by-count":5,"title":["Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands"],"prefix":"10.1155","volume":"2019","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6194-9787","authenticated-orcid":true,"given":"Catarina","family":"Falc\u00e3o de Campos","sequence":"first","affiliation":[{"name":"Department of Neurology, Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universit\u00e1rio Lisboa Norte, Lisbon, Portugal"},{"name":"Instituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, 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