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Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

Twenty two patients from 17 families with Friedreich's disease phenotype but with onset ranging from the ages of 21 to 36 are described. Comparison with "typical" Friedreich's disease with onset before 20 years of age showed only a lower occurrence of skeletal deformities. The pe...

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Detalhes bibliográficos
Main Authors: De Michele, G, Filla, A, Cavalcanti, F, Di Maio, L, Pianese, L, Castaldo, I, Calabrese, O, Monticelli, A, Varrone, S, Campanella, G
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1073086/
https://ncbi.nlm.nih.gov/pubmed/8057123
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