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The Heart in Friedreich’s Ataxia: Basic Findings and Clinical Implications

Friedreich’s Ataxia is the most common inherited ataxia in man. It is a mitochondrial disease caused by severely reduced expression of the iron binding protein, frataxin. A large GAA triplet expansion in the human FRDA gene encoding this protein inhibits expression of this gene. It is inherited in a...

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Autor principal: Payne, R Mark
Format: Artigo
Idioma:Inglês
Publicat: 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3117664/
https://ncbi.nlm.nih.gov/pubmed/21691434
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ppedcard.2011.02.007
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