TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and fatal outcome. Milder late-onset (>40 years) form has been rarely described. Gene panel sequencing in a cohort of 60 patients featuring muscle...

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Detalles Bibliográficos
Autores principales: Ronchi, Dario, Caporali, Leonardo, Manenti, Giulia Francesca, Meneri, Megi, Mohamed, Susan, Bordoni, Andreina, Tagliavini, Francesca, Contin, Manuela, Piga, Daniela, Sciacco, Monica, Saetti, Cristina, Carelli, Valerio, Comi, Giacomo Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419576/
https://www.ncbi.nlm.nih.gov/pubmed/32849836
http://dx.doi.org/10.3389/fgene.2020.00860

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419576/
https://www.ncbi.nlm.nih.gov/pubmed/32849836
http://dx.doi.org/10.3389/fgene.2020.00860

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