Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein–Associated Neurodegeneration

Background: Mitochondrial membrane protein–associated neurodegeneration (MPAN) mostly arises as an autosomal recessive disease and is caused by variants in the chromosome 19 open reading frame 12 (C19orf12) gene. However, a few C19orf12 monoallelic truncating de novo variants have been reported and...

Descripción completa

Detalles Bibliográficos
Autores principales: Yang, Yue, Zhang, Shijie, Yang, Wenming, Wei, Taohua, Hao, Wenjie, Cheng, Ting, Wang, Jiuxiang, Dong, Wei, Qian, Nannan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9006254/
https://www.ncbi.nlm.nih.gov/pubmed/35432442
http://dx.doi.org/10.3389/fgene.2022.852374

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9006254/
https://www.ncbi.nlm.nih.gov/pubmed/35432442
http://dx.doi.org/10.3389/fgene.2022.852374

Ejemplares similares