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25 November 2020: Articles

Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G

Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)

Josef Finsterer A* , Franco Laccone B

DOI: 10.12659/AJCR.927938

Am J Case Rep 2020; 21:e927938

Figure 1. Pedigree of the index patient’s family (* clinically affected, m.3243A>G: mutation carrier).

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923