ArticleJournal of rare diseases (Berlin, Germany)2025
Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death.
Article in Journal of rare diseases (Berlin, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
The spectrum of disease associated with pathogenic mitochondrial DNA (mtDNA) variants is wide. Most often, heteroplasmic mitochondrial DNA disease is the result of an adenine to guanine transition at position 3243 of mtDNA (m.3243A > G) in the
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