D

M

DAYEM-QUERE , Manal

Last name: DAYEM-QUERE

First name: Manal

2017 (v1)

Journal article

Metadata-only

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Ait-El-Mkadem, Samira Dayem-Quere, Manal Gusic, Mirjana

MDH2 encodes mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the Krebs cycle. We report bi-allelic pathogenic mutations in MDH2 in three unrelated subjects presenting with early-onset generalized hypotonia, psychomotor delay, refractory epilepsy, and...

Uploaded on: December 4, 2022