ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Discussion ALG6-CDG has been now described in 89 patients, making it the second most common type of CDG. It has a recognizable phenotype and a primary neurologic presentation.

http://link.springer.com/10.1007/s10545-016-9945-x

Source: Journal of Inherited Metabolic Disease - June 9, 2016 Category: Internal Medicine Source Type: research