Cargando…

A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing

The condition 3-methylglutaconic aciduria (3-MGA) with deafness, encephalopathy and Leigh-like (MEGDEL) syndrome, also known as 3-MGA IV, is one of a group of five rare metabolic disorders characterized by mitochondrial dysfunction, resulting in a series of phenotypic abnormalities. It is a rare, re...

Descripción completa

Detalles Bibliográficos
Autores principales: Alagoz, Meryem, Kherad, Nasim, Turkmen, Selda, Bulut, Hatice, Yuksel, Adnan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7185166/
https://www.ncbi.nlm.nih.gov/pubmed/32346411
http://dx.doi.org/10.3892/etm.2020.8658