Paternal line of transmission in chorea of Huntington with very early onset.
Very early onset of chorea of Huntington is described in two sibs who have received the mutated gene from their affected father and grandfather. The consequences and the molecular mechanisms of germinal genomic imprinting and the amplification of the expanded CAG trinucleotide repeat are discussed.
Navarrete
C
C
Unit of Investigation in Human Genetics, National Medical Center, Instituto Mexicano del Seguro Social, México, D.F.
Martinez
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I
Salamanca
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F
D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D005220:Fathers; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid