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...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2017-03-01
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Series: | Molecular Genetics and Metabolism Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426916301045 |