Cargando…
Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report
BACKGROUND: Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528126/ https://www.ncbi.nlm.nih.gov/pubmed/36192783 http://dx.doi.org/10.1186/s13256-022-03582-6 |