CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions

The classic features of deoxyguanosine kinase (DGUOK) deficiency are infantile onset hepatic failure with nystagmus and hypotonia; mitochondrial DNA studies on affected tissue reveal mitochondrial DNA depletion. Later, it has been shown that the mutations in the same gene may present with adult-onse...

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Bibliographic Details
Main Authors: V. Montano, C. Simoncini, Cassi L. Calì, A. Legati, G. Siciliano, M. Mancuso
Format: Article
Language:English
Published: Wiley 2019-01-01
Series:Case Reports in Neurological Medicine
Online Access:http://dx.doi.org/10.1155/2019/5918632
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