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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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Zanolini, Alice, Potic, Ana, Carrara, Franco, Lamantea, Eleonora, Diodato, Daria, Blasevich, Flavia, Marchet, Silvia, Mora, Marina, Pallotti, Francesco, Morandi, Lucia, Zeviani, Massimo, Lamperti, Costanza
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
Matèries:
Case Report
Accés en línia: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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