A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

Mitochondrial disorders with multiple mitochondrial respiratory chain (MRC) enzyme deficiency and depletion of mitochondrial DNA (mtDNA) are autosomal recessive conditions due to mutations in several nuclear genes necessary for proper mtDNA maintenance. In this report, we describe two Italian siblin...

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Bibliografiska uppgifter
Huvudupphovsmän: Lamperti, Costanza, Fang, Mingyan, Invernizzi, Federica, Liu, Xuanzhu, Wang, Hairong, Zhang, Qing, Carrara, Franco, Moroni, Isabella, Zeviani, Massimo, Zhang, Jianguo, Ghezzi, Daniele
Materialtyp: Artigo
Språk:Inglês
Publicerad: Academic Press 2012
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3490101/
https://ncbi.nlm.nih.gov/pubmed/23010432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2012.08.020
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