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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Detalhes bibliográficos
Main Authors: Lamperti, Costanza, Fang, Mingyan, Invernizzi, Federica, Liu, Xuanzhu, Wang, Hairong, Zhang, Qing, Carrara, Franco, Moroni, Isabella, Zeviani, Massimo, Zhang, Jianguo, Ghezzi, Daniele
Formato: Artigo
Idioma:Inglês
Publicado em: Academic Press 2012
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Article
Acesso em linha: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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