TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels

TRIT1 defect is a rare, autosomal‐recessive disorder of transcription, initially described as a condition with developmental delay, myoclonic seizures, and abnormal mitochondrial function. Currently, only 13 patients have been reported. We reviewed the genetic, clinical, and metabolic aspects of the...

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Detalles Bibliográficos
Autores principales: Muylle, Ewout, Jiang, Huafang, Johnsen, Christin, Byeon, Seul Kee, Ranatunga, Wasantha, Garapati, Kishore, Zenka, Roman M., Preston, Graeme, Pandey, Akhilesh, Kozicz, Tamas, Fang, Fang, Morava, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826177/
https://www.ncbi.nlm.nih.gov/pubmed/36047296
http://dx.doi.org/10.1002/jimd.12550

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826177/
https://www.ncbi.nlm.nih.gov/pubmed/36047296
http://dx.doi.org/10.1002/jimd.12550

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