Article
Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G.
The American journal of case reports - 25 Nov 2020
Finsterer Josef, Laccone Franco
Abstract excerpt
BACKGROUND The pathogenic mitochondrial DNA variant m.3243A>G is associated with a wide range of clinical features, making disease course and prognosis extremely difficult to predict. We aimed to understand the cause of this broad intra-familial phenotypic heterogeneity in a large family carrying the variant m.3243A>G. CASE REPORT Thirteen family members were clinically affected. Clinical manifestations occurred...
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