Results 61 to 70 of about 6,556 (183)
Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion
Balkan Journal of Medical Genetics, 2018 Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association
Finsterer J +4 more
doaj +1 more source
EBioMedicine, 2015 Loss of Muscleblind-like 1 (Mbnl1) is known to alter Clc-1 splicing to result in myotonia. Mbnl1ΔE3/ΔE3/Mbnl3ΔE2 mice, depleted of Mbnl1 and Mbnl3, demonstrate a profound enhancement of myotonia and an increase in the number of muscle fibers with very ...
Jongkyu Choi +10 more
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British Journal of Pharmacology, Volume 183, Issue 15, Page 4145-4162, August 2026.Background and Purpose Local anaesthetics and class I anti‐arrhythmic drugs block voltage‐gated Na+ channels, but the molecular basis for the isoform differences in drug sensitivity remains unclear. Understanding these mechanisms is essential for optimizing therapeutic efficacy and safety.
Tatsuo Munakata +4 more
wiley +1 more source
European Journal of Neurology, Volume 33, Issue 8, August 2026.In this proof‐of‐concept study, 3D radiomic texture analysis of quantitative muscle MRI (proton density fat fraction (PDFF, %) maps) distinguished the myogenic disease DM1 from the neurogenic disease CMT1A. Compared with DM1, CMT1A showed higher entropy, contrast, and lower homogeneity, reflecting a reticular vs.
Louise Iterbeke +7 more
wiley +1 more source
Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion
Arquivos de Neuro-Psiquiatria, 2001 In myotonic dystrophy (MD), disease severity has been correlated with expansion of CTG repeats in chromosome 19. The aims of this study were to evaluate efficacy of electromyography in the diagnosis of MD, access the frequency and the characteristics of ...
Pfeilsticker Beatriz Helena Miranda +2 more
doaj
An unusual presentation of osteochondrosis in the elbows and tarsi of a Friesian colt
Equine Veterinary Education, Volume 38, Issue 8, Page e464-e471, August 2026.Summary This case report describes the clinical, diagnostic imaging results and post‐mortem findings in a foal that underwent reassessment following surgical management of angular limb deformities (ALD) and acute onset of gait abnormalities. Upon presentation, the foal showed an abnormal stiff gait characterised by bilateral medial limb collapse during
A. Torrent‐Crosa +3 more
wiley +1 more source
Scandinavian Journal of Medicine &Science in Sports, Volume 36, Issue 8, August 2026.ABSTRACT It remains unclear why exercising damaged muscles is perceived as disproportionately more effortful. Given the known role of inorganic phosphate (Pi) in fatigue and afferent sensory signaling, we tested whether muscle damage disrupts phosphate metabolism and whether this is associated with heightened ratings of perceived exertion (RPE ...
Jamie Stewart McPhee +5 more
wiley +1 more source