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Alpers-Huttenlocher syndrome: A review
Alpers-Huttenlocher syndrome is an uncommon mitochondrial disease most often associated with mutations in the mitochondrial DNA replicase, polymerase gamma. Alterations in enzyme activity result in reduced levels and/or deletions within the mitochondrial DNA with phenotypic manifestations occurring...
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| Huvudupphovsmän: | , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2013
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3578656/ https://ncbi.nlm.nih.gov/pubmed/23419467 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2012.09.014 |
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