Article
Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.
Annals of neurology - 1 Mar 1995
Palau F, De Michele G, Vilchez J J, Pandolfo M, Monrós E, Cocozza S, Smeyers P, Lopez-Arlandis J, Campanella G, Di Donato S
Abstract excerpt
Absence of lower limb tendon reflexes has been considered an essential diagnostic criterion for Friedreich's ataxia (FA). However, preservation of knee and ankle jerks has been reported in a few patients. Linkage analysis to FA locus (FRDA) on chromosome 9q13-21.1 was performed in 11 patients from 6 families with FA phenotype, including cardiomyopathy, but retained reflexes (FARR). A maximal lod score of 3.38 at...
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