Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

Syndromes associated with multiple mtDNA deletions are due to different molecular defects that can result in a wide spectrum of predominantly adult-onset clinical presentations, ranging from progressive external ophthalmoplegia (PEO) to multisystemic disorders of variable severity. The autosomal-dom...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Ronchi, Dario, Di Fonzo, Alessio, Lin, Weiqiang, Bordoni, Andreina, Liu, Changwei, Fassone, Elisa, Pagliarani, Serena, Rizzuti, Mafalda, Zheng, Li, Filosto, Massimiliano, Ferrò, Maria Teresa, Ranieri, Michela, Magri, Francesca, Peverelli, Lorenzo, Li, Hongzhi, Yuan, Yate-Ching, Corti, Stefania, Sciacco, Monica, Moggio, Maurizio, Bresolin, Nereo, Shen, Binghui, Comi, Giacomo Pietro
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2013
Pynciau:
Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3567272/
https://ncbi.nlm.nih.gov/pubmed/23352259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.12.014
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