Key result
A heterozygous c.1208A>G variant in the MYRF gene was identified in familial cases of encephalopathy with extensive myelin vacuolization, diminishing its transcriptional activity.
Observational
Functional defects in the MYRF gene, a transcriptional regulator for oligodendrocyte differentiation, are causally associated with encephalopathy with extensive myelin vacuolization.
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Points to genetic factors in recurrent MERS-like encephalopathy; leaves open specific variant identification before diagnostic changes.
Kurahashi et al. (2017) conducted an observational in Encephalopathy with reversible myelin vacuolization (MERS). MYRF gene variant (c.1208A>G predicting p.Gln403Arg) was evaluated on Identification of genetic variants associated with the condition. A heterozygous c.1208A>G variant in the MYRF gene was identified in familial cases of encephalopathy with extensive myelin vacuolization, diminishing its transcriptional activity.
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