Article
Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions.
Current protocols in human genetics - 11 Jan 2017
Martindale Joanne E
Abstract excerpt
Spinocerebellar ataxias (SCAs) are a group of disorders that are both clinically and genetically heterogeneous. They usually demonstrate onset in adulthood, but some forms may have juvenile or infantile onset. There are many different types of SCA, demonstrating different modes of inheritance and types of mutation. The most common forms are due to dominantly inherited expansions in trinucleotide repeat sequences...
Topics
Join the communities discussing this publication.