Original paper
Bi‐allelic variants in MDH2 : Expanding the clinical phenotype
Abstract
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 feature often associated with...
Paper Details
Title
Bi‐allelic variants in MDH2 : Expanding the clinical phenotype
Published Date
Nov 22, 2021
Journal
Volume
101
Issue
2
Pages
260 - 264
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Notes
History