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: Tags: EMG, Neonatal, Neonatal seizures ARTICLE Source Type: research