A new pathway to find structural variations in inherited neurological cases - the SCA4 example

Dr. Sarah Camargos interviews Dr. Zhonghbo Chen and Prof. Henry Houlden, first and senior author of a MDJ paper exploring a GGC repeat expansion in the ZFHX3 gene associated with spinocerebellar ataxia type 4. They describe a criative methodology to find a gene in a family with a Swedish ancestry.

<br/><a href="https://education.movementdisorders.org/Detail/803/Journal-CME-39-03:-Adaptive-Long-Read-Sequencing-Reveals-GGC-Repeat-Expansion-in-ZFHX3-Associated-with-Spinocerebellar-Ataxia-Type-4?_ga=2.157294643.888657348.1714410319-1023229515.1697731681">Journal CME</a> is available until April 04, 2025

<a href="https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29704">Read the article.</a>