Pseudodominance in Friedreich Ataxia-Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation.

Maria João Malaquias,Jorge Oliveira,Manuela Santos,Ana Filipa Brandão,Ana Sardoeira,Jorge Sequeiros,José Barros,Joana Damásio

Movement disorders clinical practice（2023）

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摘要

Clinicians should be aware of the possibility of pseudodominance when facing an apparent autosomal dominant pedigree, particularly in disorders with high frequency of carriers and variable expression. Otherwise, genetic diagnoses may be delayed.

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关键词

heterozygous carriers for recessive diseases,late‐onset Friedreich ataxia,pseudodominance

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