‘Pseudo‐Dominant’ Inheritance in Friedreich's Ataxia: Clinical and Genetic Study of a Brazilian Family

Friedreich's ataxia (FA) is an autosomal recessive inherited disorder characterized by progressive gait and limb ataxia, hypertrophic cardiomyopathy, limb muscular weakness, and areflexia with positive extensor plantar response. Loss of vibratory and position sense, skeletal abnormalities, and...

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Detalhes bibliográficos
Publicado no:Mov Disord Clin Pract
Main Authors: Moro, Adriana, Martinez, Alberto R.M., Karuta, Simone C.V., Munhoz, Renato P., Moscovich, Mariana, Germiniani, Francisco M.B., Arruda, Walter O., Raskin, Salmo, Teive, Hélio A.G.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2014
Assuntos:
Case Series
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6182984/
https://ncbi.nlm.nih.gov/pubmed/30363888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12087
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