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Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family

10 Mar 2023

Abstract excerpt

The Spinocerebellar ataxias represent a heterogeneous group of autosomal dominant transmitted neurodegenerative disorders. The number of causative genes is growing and up to now, more than 40 different SCAs have been described.1 Variants in the transglutaminase six gene (TGM6)—now known to cause ATX-TGM6 (SCA35)—have been first described in 2010,2 but the clinical phenomenology has been only sparsely documented....

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PMID: 37332650
DOI: 10.1002/mdc3.13717

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