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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...

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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

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