Mutations in mdh2, encoding a krebs cycle enzyme, cause early-onset severe encephalopathy

HIGHLIGHTS

• who: Samira Ait-El-Mkadem from the DepartmentAntipolis University Imagine, Paris, France have published the paper: Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy, in the Journal: (JOURNAL)
• what: The activity was notably lower in cells obtained from the parents of S1 (F1: I.1 and I.2, heterozygous for the c.398C>T and c.620C>T variants, respectively) than in control fibroblasts.

SUMMARY

(B) Cross-species conservation of the MDH2 sequence flanking the altered Gly37, Pro133, and Pro207 amino_acids. The authors changed the MDH2 . . .

 



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