Article
Evidence of a genetic marker associated with early onset in Friedreich's ataxia.
Journal of neurology - 1 Jan 1993
Cocozza S, Antonelli A, Campanella G, Cavalcanti F, De Michele G, Di Donato S, Filla A, Monticelli A, Pianese L, Piccinelli A
Abstract excerpt
We evaluated the association between age at onset of Friedreich's ataxia and alleles of two restriction fragment length polymorphisms (RFLP) at D9S15 and D9S5 in the 9q13-9q21.1 region. We studied 65 Italian patients from 49 families. Age at onset was not normally distributed in our patients, suggesting allelic heterogeneity. Patients homozygous for allele 1 of MspI RFLP detected by probe MCT112 at D9S15 (M1) had...
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