Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG
Conclusions:
We report a genetic syndrome combining myasthenic features and severe neurodegeneration with therapy-refractory epilepsy. The underlying cause is a glycosylation defect due to mutations in ALG14. These cases broaden the phenotypic spectrum associated with ALG14 congenital disorders of glycosylation as previously only isolated myasthenia has been described.
Source: Neurology - Category: Neurology Authors: Schorling, D. C., Rost, S., Lefeber, D. J., Brady, L., Müller, C. R., Korinthenberg, R., Tarnopolsky, M., Bönnemann, C. G., Rodenburg, R. J., Bugiani, M., Beytia, M., Krüger, M., van der Knaap, M., Kirschner, J. Tags: EMG, Neonatal, Neonatal seizures ARTICLE Source Type: research
More News: Brain | Epilepsy | Genetics | Myasthenia Gravis | Neurology | Perinatology & Neonatology | Study