Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations

Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 major phenotypes of neurodegenerative disease that include: 1) childhood Myocerebrohepatopathy Spectrum dis...

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Détails bibliographiques
Auteurs principaux: Wong, Lee-Jun C., Naviaux, Robert K., Brunetti-Pierri, Nicola, Zhang, Qing, Schmitt, Eric S., Truong, Cavatina, Milone, Margherita, Cohen, Bruce H., Wical, Beverly, Ganesh, Jaya, Basinger, Alice A., Burton, Barbara K., Swoboda, Kathryn, Gilbert, Donald L., Vanderver, Adeline, Saneto, Russell P., Maranda, Bruno, Arnold, Georgianne, Abdenur, Jose E., Waters, Paula J., Copeland, William C.
Format: Artigo
Langue:Inglês
Publié: 2008
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2891192/
https://ncbi.nlm.nih.gov/pubmed/18546365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20824
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