A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

Article ID	Journal	Published Year	Pages	File Type
10833483	Molecular Genetics and Metabolism	2012	6 Pages	PDF

Abstract

âº We report a novel homozygous mutation in the SUCLA2, identified by exome sequencing. âº Methyl-malonic aciduria can be absent in patients with SUCLA2 mutations. âº Exome sequencing is useful for the diagnosis of genetically heterogeneous diseases.

Keywords

NGS OXPHOS MDS MRC MMA methylmalonic acid mtDNA depletion syndrome SUCLA2 Mitochondrial DNA Mitochondrial disorder Encephalomyopathy Mitochondrial DNA depletion Next-generation sequencing mtDNA Mitochondrial respiratory chain Oxidative phosphorylation

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

Authors

Costanza Lamperti, Mingyan Fang, Federica Invernizzi, Xuanzhu Liu, Hairong Wang, Qing Zhang, Franco Carrara, Isabella Moroni, Massimo Zeviani, Jianguo Zhang, Daniele Ghezzi,