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Article

MYRF is associated with encephalopathy with reversible myelin vacuolization.

Annals of neurology - 1 Jan 2018

Kurahashi Hirokazu, Azuma Yoshiteru, Masuda Akio, Okuno Tatsuya, Nakahara Eri, Imamura Takuji, Saitoh Makiko, Mizuguchi Masashi, Shimizu Toshiaki, Ohno Kinji, Okumura Akihisa

Abstract excerpt

OBJECTIVE: Reversible myelin vacuolization is associated with variable conditions including mild encephalitis/encephalopathy with a reversible splenial lesion (MERS), which is characterized by mildly impaired consciousness and transient splenial lesion. Familial and/or recurrent cases with a clinical diagnosis of MERS suggest the presence of genetic factors. METHODS: We examined a family in which the proband...

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PMID: 29265453
DOI: 10.1002/ana.25125

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