Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis
Mitochondrial DNA (mtDNA) depletion syndrome encompasses a heterogeneous group of disorders characterized by a reduction in the mtDNA copy number. We identified two patients with clinical presentations consistent with mtDNA depletion syndrome (MDS), who were subsequently found to have apparently hom...
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| Main Authors: | , , , , , , , , |
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| Format: | Text |
| Language: | English |
| Published: |
2011
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| Subjects: | |
| Online Access: | https://pmc.ncbi.nlm.nih.gov/articles/PMC7512120/ https://pubmed.ncbi.nlm.nih.gov/22011815 http://dx.doi.org/10.1038/jhg.2011.112 |
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