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Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
Eur J Transl Myol
March 2022
King's College London, Randall Centre for Cell and Molecular Biophysics, Guy's Campus, London.
Neuromuscular disorders are a heterogeneous group of acquired or hereditary conditions that affect striated muscle function. The resulting decrease in muscle strength and motility irreversibly impacts quality of life. In addition to directly affecting skeletal muscle, pathogenesis can also arise from dysfunctional crosstalk between nerves and muscles, and may include cardiac impairment.
View Article and Find Full Text PDFMyotonia-like symptoms in a patient with spinal and bulbar muscular atrophy.
Neuromuscul Disord
November 2015
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address:
We describe the case of a 33-year-old man with a 4-year history of worsening muscle stiffness and weakness in his right hand. He showed elevated serum creatine kinase levels at the onset of muscle stiffness that was characterized by delayed muscle relaxation after voluntary contraction. This symptom often occurred during cold exposure, and was partially attenuated by sodium channel blockade.
View Article and Find Full Text PDFProteomic profiling of skeletal muscle plasticity.
Muscles Ligaments Tendons J
October 2011
Muscle Biology Laboratory, Department of Biology, National University of Ireland, Maynooth, Co. Kildare, Ireland.
One of the most striking physiological features of skeletal muscle tissues are their enormous capacity to adapt to changed functional demands. Muscle plasticity has been extensively studied by histological, biochemical, physiological and genetic methods over the last few decades. With the recent emergence of high-throughput and large-scale proteomic techniques, mass spectrometry-based surveys have also been applied to the global analysis of the skeletal muscle protein complement during physiological modifications and pathophysiological alterations.
View Article and Find Full Text PDFMyotonia congenita and regional anaesthesia with peripheral nerve stimulation: a case report.
Minerva Anestesiol
October 2007
Section of General and Special Anaesthesiology, Department of Medico-Surgical Specialties, University of Padua, Padua, Italy.
Myotonia congenita is a rare disorder caused by a defect in the skeletal muscle chloride channel function, which may cause sustained membrane depolarisation. We report a case regarding a 52-year-old man affected by this muscular pathology and scheduled for shoulder surgery that was performed under sedation and peripheral nerve block. The international literature does not elucidate clear preference toward a particular anaesthesia technique, but we believe that in this setting, regional anaesthesia and complete monitoring should be preferentially utilized when possible.
View Article and Find Full Text PDFEffects of acute and chronic denervation on human myotonia.
Electromyogr Clin Neurophysiol
January 2005
Electromyography Laboratory, Department of Neurology, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA.
A 32-year-old man with myotonia congenita (Becker type) sustained multiple gunshot wounds. These produced a partial thoracic spinal cord injury and a severe sciatic nerve injury. Six days following the incident, clinical (percussion) and electrophysiologic (EMG) myotonia could be elicited in paretic leg muscles resulting both from the myelopathy and peripheral nerve disruption.
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