Article
SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.
Cerebellum (London, England) - 1 Feb 2017
Svenstrup Kirsten, Nielsen Troels Tolstrup, Aidt Frederik, Rostgaard Nina, Duno Morten, Wibrand Flemming, Vinther-Jensen Tua, Law Ian, Vissing John, Roos Peter, Hjermind Lena Elisabeth, Nielsen Jørgen Erik
Abstract excerpt
The spinocerebellar ataxias (SCA) are a group of rare inherited neurodegenerative diseases characterized by slowly progressive cerebellar ataxia, resulting in unsteady gait, clumsiness, and dysarthria. The disorders are predominantly inherited in an autosomal dominant manner. Mutations in the gene AFG3L2 that encodes a subunit of the mitochondrial m-AAA protease have previously been shown to cause spinocerebellar...
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