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MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle
Disorders of mitochondrial DNA (mtDNA) maintenance are clinically and genetically heterogeneous, embracing recessive mtDNA depletion syndromes affecting children and adult-onset multiple mtDNA deletion disorders. Here we show that mutation of MPV17 – a gene implicated in severe, infantile hepatocere...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
Pergamon Press
2012
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3387382/ https://ncbi.nlm.nih.gov/pubmed/22508010 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2012.03.006 |
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