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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...
Autores principales: | Yang, Yue, Zhang, Shijie, Yang, Wenming, Wei, Taohua, Hao, Wenjie, Cheng, Ting, Wang, Jiuxiang, Dong, Wei, Qian, Nannan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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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