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

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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Bibliographic Details
Main Authors: Alice Zanolini, Ana Potic, Franco Carrara, Eleonora Lamantea, Daria Diodato, Flavia Blasevich, Silvia Marchet, Marina Mora, Francesco Pallotti, Lucia Morandi, Massimo Zeviani, Costanza Lamperti
Format: Article
Language:English
Published: Elsevier 2017-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
ND2
Exercise intolerance
Complex I deficiency
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916301045

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http://www.sciencedirect.com/science/article/pii/S2214426916301045

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