Clinical Heterogeneity in <i>MT-ATP6</i> Pathogenic Variants: Same Genotype-Different Onset.

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作者： Sara,Capiau ^[1] ; Joél,Smet ^[2] ; Boel,De Paepe ^[3] ; Yilmaz,Yildiz ^[2] ; Mutluay,Arslan ^[3] ; Olivier,Stevens ^[4] ; Maxime,Verschoore ^[5] ; Hedwig,Stepman ^[6] ; Sara,Seneca ^[7] ; Arnaud,Vanlander ^[2]

作者单位： Department of Laboratory Medicine, Ghent University Hospital, 9000 Ghent, Belgium. ^[1] Department of Child Neurology & Metabolism, Ghent University Hospital, 9000 Ghent, Belgium. ^[2] Laboratory for Mitochondrial Investigations, Ghent University, 9000 Ghent, Belgium. ^[3] Department of Pediatric Metabolism, Hacettepe University Ihsan Dogramaci Children's Hospital, Hacettepe 06230, Turkey. ^[4] Pediatric Metabolic Diseases Unit, Gülhane Training and Research Hospital of the University of Health Sciences, Gülhane 06010, Turkey. ^[5] Department of Pediatric Neurology, Gülhane Training and Research Hospital of the University of Health Sciences, Gülhane 06010, Turkey. ^[6] Department of Neurology, Maria Middelares General Hospital, 9000 Ghent, Belgium. ^[7] Research Group Reproduction and Genetics (REGE), Free University Brussels (VUB), 1090 Brussels, Belgium. ^[8] Centre for Medical Genetics, University Hospital Brussels, Free University Brussels (VUB), 1090 Brussels, Belgium. ^[9]

关键词 ATP-synthase MT-ATP6 NC_012920.1(MT-ATP6):m.9035T>C complex V deficiency genotype-phenotype correlation mitochondrial disorder p.L170P

主题词青少年(Adolescent);共济失调(Ataxia);基因型(Genotype);人类(Humans);婴儿(Infant);线粒体疾病(Mitochondrial Diseases);线粒体质子转运ATP酶(Mitochondrial Proton-Translocating ATPases);突变(Mutation);表型(Phenotype)

DOI 10.3390/cells11030489

PMID 35159298

发布时间 2022-05-31

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2022年11卷3期

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Clinical Heterogeneity in <i>MT-ATP6</i> Pathogenic Variants: Same Genotype-Different Onset.

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Clinical Heterogeneity in <i>MT-ATP6</i> Pathogenic Variants: Same Genotype-Different Onset.

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