Novel mutations in SLC6A5 with benign course in hyperekplexia
Sign Up to like & getrecommendations! Published in 2019 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a004465
Abstract: Infants suffering from life-threatening apnea, stridor, cyanosis, and increased muscle tone may often be misdiagnosed with infantile seizures and inappropriately treated because of lack and delay in genetic diagnosis. Here, we report a patient with… read more here.
Keywords: diagnosis; novel mutations; slc6a5 benign; course hyperekplexia ... See more keywords
Prompt Response to Prednisone Predicts Benign Course in MuSK-MG
Sign Up to like & getrecommendations! Published in 2017 at "European Neurology"
DOI: 10.1159/000479228
Abstract: Background: The difficult course of patients with myasthenia gravis (MG) with anti-muscle-specific tyrosine kinase antibodies (MuSK) has been emphasized. However, no clear information is available on patients who have a benign course. Methods: This study… read more here.
Keywords: good response; response; year; response months ... See more keywords