BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot –Marie–Tooth disease

This study further enforces the association betweenBAG3 gene and CMT disease, indicating thatBAG3 should be considered in the genetic testing for CMT. The p.Pro209Ser mutation with different ethnic origins might be another hotspot mutation ofBAG3. MRI is helpful to detect accurate extent of muscle involvement.

http://link.springer.com/10.1007/s00415-019-09680-8

Source: Journal of Neurology - December 17, 2019 Category: Neurology Source Type: research