An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region

International Journal of Clinical and Experimental Pathology

Volumn 7, Issue 6, 2014, Pages 3355-3362

  Hata, Yukiko ^a   Kinoshita, Koshi ^a   Miya, Kazushi ^a   Hirono, Keiichi ^a   Ichida, Fukiko ^a   Yoshida, Koji ^b   Nishida, Naoki ^a  

^a UNIVERSITY OF TOYAMA   (Japan)

^b TOYAMA UNIVERSITY HOSPITAL   (Japan)

Author keywords

Arrhythmogenic right ventricular cardiomyopathy; EIF2B2 mutation; Hemizygosity; Sudden unexpected death; Vanishing white matter disease

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR;

AUTOPSY; BRAIN; CASE REPORT; GENETICS; HEMIZYGOTE; HUMAN; INFANT; LEUKOENCEPHALOPATHY; MALE; MUTATION; ONSET AGE; PATHOLOGY; PRESCHOOL CHILD;

AGE OF ONSET; AUTOPSY; BRAIN; CHILD, PRESCHOOL; EUKARYOTIC INITIATION FACTOR-2B; HEMIZYGOTE; HUMANS; INFANT; LEUKOENCEPHALOPATHIES; MALE; MUTATION;

EID: 84904356560     PISSN: None     EISSN: 19362625     Source Type: Journal    
DOI: None     Document Type: Article

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