ArticleDiagnostics (Basel, Switzerland)2021
Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review.
Article in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 2 citations in OpenAlex.
- On the Edge of Empire: Paleogenomic Insights into Roman Dacia.bioRxiv : the preprint server for biology · 2026Article
- Familial mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome: Three case reports.World journal of clinical cases · 2022Article
- Mitochondrial DNA haplogroup analysis in Saudi Arab patients with multiple sclerosis.PloS one · 2022Article
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12 authors at 3 institutions in 2 countries.
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Abstract
Mitochondrial encephalomyopathies (MEMP) are heterogeneous multisystem disorders frequently associated with mitochondrial DNA (mtDNA) mutations. Clinical presentation varies considerably in age of onset, course, and severity up to death in early childhood. In this study, we performed molecular genetic analysis for mtDNA pathogenic mutation detection in Serbian children, preliminary diagnosed clinically, biochemically and by brain imaging for mitochondrial encephalomyopathies disorders. Sanger sequencing analysis in three Serbian probands revealed two known pathogenic mutations. Two probands had a heteroplasmic point mutation m.3243A>G in the
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