Article
Bi-allelic variants in MDH2: Expanding the clinical phenotype.
Clinical genetics - 1 Feb 2022
Ticci Chiara, Nesti Claudia, Rubegni Anna, Doccini Stefano, Baldacci Jacopo, Dal Canto Flavio, Ragni Luca, Cordelli Duccio M, Donati Maria Alice, Santorelli Filippo M
Abstract excerpt
Bi-allelic alterations in the MDH2 gene have recently been reported in three unrelated toddlers with early-onset severe encephalopathy. Here, we describe a new case of a child carrying novel variants in MDH2. This child presented with early-onset encephalocardiopathy requiring heart transplant and showed cerebellar ataxia and drug-responsive epilepsy; his family history was significant for multiple cancers, a...
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