Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene.

McCabe, Dominick J H

Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene. [electronic resource] - Archives of neurology Feb 2002 - 296-300 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0003-9942

10.1001/archneur.59.2.296 doi


Adaptor Proteins, Signal Transducing
Adult
Ataxia--etiology
Chromosomes, Human, Pair 9--genetics
Disease Progression
Female
Friedreich Ataxia--genetics
Humans
Male
Nerve Tissue Proteins--analysis
Pedigree
Phenotype
Point Mutation
Polymerase Chain Reaction
Trinucleotide Repeats--genetics