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http://dx.doi.org/10.3389/fneur.2022.1079410 | DOI Listing |
Muscle Nerve
December 2024
Department of Neurology, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.
Toxins (Basel)
December 2024
Headache Center, Neurological Clinic, "L. Amaducci", AOUC Policlinico, Piazza G. Cesare, 11, 70124 Bari, Italy.
This Special Issue aims to provide an updated overview of the current state and future perspectives of botulinum toxin treatment for migraine [...
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December 2024
Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent relaxation of the muscle, and its dysfunction leads to impaired muscle relaxation after voluntary or evoked contraction and muscle stiffness. More than 300 pathogenic variants have been found in association with congenital myotonia, inherited as recessive or dominant traits (with complete or incomplete penetrance).
View Article and Find Full Text PDFFront Genet
December 2024
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was referred to our neurological outpatient clinic at the age of 54 for persistent hyperCKemia (>1000 U/l) associated with muscle fatigue and myalgia.
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December 2024
Neuromuscular Diseases Unit, Policlinico Tor Vergata, Rome, Italy.
Introduction: In myotonic dystrophy type 2 (DM2), metabolic dysfunctions are frequent. Therefore, measurement of muscle mass and body composition by non-invasive methods could help in evaluating disease severity and progression. The aim of our study was to investigate, by means of bioelectrical impedance analysis (BIA), whether DM2 patients have an alteration in their body composition and if this finding correlates with strength and motor performances.
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