Paternal line of transmission in chorea of Huntington with very early onset.

Article

Paternal line of transmission in chorea of Huntington with very early onset.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1994

Navarrete C, Martinez I, Salamanca F

Abstract excerpt

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.

Topics

Adult
Brain
Child
Fathers
Female
Genomic Imprinting
Humans
Huntington Disease
Magnetic Resonance Imaging
Male
Mutation
Pedigree
Repetitive Sequences, Nucleic Acid

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