ArticleJCEM case reports2025
Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy.
Article in JCEM case reports, 2025. 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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Who cites it
3 citing papers in PubMed.
- Mitochondrial Dysfunction: From Molecular Mechanisms to Modern Approaches for Basic and Clinical Research.Biomedicines · 2026Review
- Response to Letter to the Editor from Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".JCEM case reports · 2025Article
- Letter to the Editor From Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".JCEM case reports · 2025Article
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Authors and funding
6 authors.
Funding
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Abstract
Mitochondrial diseases have a wide spectrum of clinical presentations. Heteroplasmy, the presence of wild type and mutated mitochondrial deoxyribonucleic acid (DNA) in a single cell, is typical of mitochondrial disorders. It can show varying levels between cells of the same tissue, between organs in a single individual as well as between members of the same family. We describe below a woman who presented to us for management of pancreatic diabetes. Her daughter had a history of recurrent bouts of myopathy; evaluation was suggestive of having a mitochondrial etiology. Subsequently, mitochondrial genetic testing revealed positivity for m.3243A>G variant with a heteroplasmy of 45% in the blood in the daughter and 15% in the proband. We highlight how differences in the heteroplasmy and threshold levels among members of the same family resulted in a variable spectrum of clinical disease. Family screening of members identified with mitochondrial disease is of utmost significance to ensure early diagnosis and therapy.
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