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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Detalles Bibliográficos
Autores principales: Lamperti, Costanza, Fang, Mingyan, Invernizzi, Federica, Liu, Xuanzhu, Wang, Hairong, Zhang, Qing, Carrara, Franco, Moroni, Isabella, Zeviani, Massimo, Zhang, Jianguo, Ghezzi, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490101/
https://www.ncbi.nlm.nih.gov/pubmed/23010432
http://dx.doi.org/10.1016/j.ymgme.2012.08.020

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490101/
https://www.ncbi.nlm.nih.gov/pubmed/23010432
http://dx.doi.org/10.1016/j.ymgme.2012.08.020

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