EMG demonstrated profuse true myotonic discharges in every muscle that was tested, with normal motor unit potential morphology and normal conduction velocity. The initial misdiagnosis of ALS resulted ...
Background A 56-year-old woman was referred to a neurogenetic clinic with a history of stiffness and transient weakness. A previous needle electromyogram had confirmed the presence of myotonia, but a ...
Previously, we identified the 8 nt at the 5′ end of exon 7A as an exonic splicing enhancer (ESE) essential for basal inclusion of the exon 29. Given that both −10–15 and 1–25 PS2OMe covered the ESE ...
Sudden death can occur as a consequence of cardiac-conduction abnormalities in the neuromuscular disease myotonic dystrophy type 1. The determinants of the risk of sudden death remain imprecise. We ...
Myotonic dystrophy type 1 incurs high healthcare costs, driven by age and comorbidities like cardiac and respiratory issues. Early detection and integrated management of multisystemic complications ...
Electromyography (EMG) is a diagnostic test that measures how well the muscles respond to the electrical signals emitted to specialized nerve cells called motor nerves. EMG tests are safe and pose ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results