‘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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Dettagli Bibliografici
Pubblicato in:Mov Disord Clin Pract
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2014
Soggetti:
Case Series
Accesso online: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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