Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

To date, only few mutations in the mitochondrial DNA (mtDNA)-encoded ND2 subunit of Complex I have been reported, usually presenting a severe phenotype characterized by early onset encephalomyopathy and early death. In this report, we describe a new mutation in the MTND2 gene in a 21-year-old man wi...

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Bibliografische gegevens
Gepubliceerd in:Mol Genet Metab Rep
Hoofdauteurs: Zanolini, Alice, Potic, Ana, Carrara, Franco, Lamantea, Eleonora, Diodato, Daria, Blasevich, Flavia, Marchet, Silvia, Mora, Marina, Pallotti, Francesco, Morandi, Lucia, Zeviani, Massimo, Lamperti, Costanza
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2016
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5217772/
https://ncbi.nlm.nih.gov/pubmed/28070494
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.11.009
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