Friedreich cardiomyopathy is a secondary desminopathy

Heart disease is an integral part of Friedreich ataxia (FA) and the most common cause of death in this autosomal recessive disease. The result of the mutation is lack of frataxin, a small mitochondrial protein. The clinical and pathological phenotypes of FA are complex, involving brain, spinal cord,...

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Bibliographic Details
Main Authors: Arnulf Koeppen, Rahman Rafique, Joseph Mazurkiewicz, Steven Pelech, Catherine Sutter, Qishan Lin, Jiang Qian
Format: Article
Language:English
Published: University of Münster / Open Journals System 2021-12-01
Series:Free Neuropathology
Subjects:
Online Access:https://www.uni-muenster.de/Ejournals/index.php/fnp/article/view/3679