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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Detalles Bibliográficos
Autores principales: Montano, V., Simoncini, C., Calì, Cassi L., Legati, A., Siciliano, G., Mancuso, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431376/
https://www.ncbi.nlm.nih.gov/pubmed/30956829
http://dx.doi.org/10.1155/2019/5918632

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431376/
https://www.ncbi.nlm.nih.gov/pubmed/30956829
http://dx.doi.org/10.1155/2019/5918632

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