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Myoedema: a forgotten sign in acute colchicine myopathy.
BMJ Case Rep
October 2023
Neurology, National Neuroscience Institute, Singapore.
Colchicine myopathy typically presents acutely to subacutely with progressive limb weakness. The patients may not be on high doses of colchicine but almost always have acute kidney injury. Dehydration from colchicine-induced diarrhoea is often a precipitating factor.
View Article and Find Full Text PDFChoroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.
Brain
October 2023
Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL 32610, USA.
Myotonic dystrophy type 1 is a dominantly inherited multisystemic disease caused by CTG tandem repeat expansions in the DMPK 3' untranslated region. These expanded repeats are transcribed and produce toxic CUG RNAs that sequester and inhibit activities of the MBNL family of developmental RNA processing factors. Although myotonic dystrophy is classified as a muscular dystrophy, the brain is also severely affected by an unusual cohort of symptoms, including hypersomnia, executive dysfunction, as well as early onsets of tau/MAPT pathology and cerebral atrophy.
View Article and Find Full Text PDFA single dose of exercise stimulates skeletal muscle mitochondrial plasticity in myotonic dystrophy type 1.
Acta Physiol (Oxf)
April 2023
Department of Kinesiology, Faculty of Science, McMaster University, Hamilton, Ontario, Canada.
Aim: Myotonic dystrophy type 1 (DM1) is the second most common muscular dystrophy after Duchenne and is the most prevalent muscular dystrophy in adults. DM1 patients that participate in aerobic exercise training experience several physiological benefits concomitant with improved muscle mitochondrial function without alterations in typical DM1-specific disease mechanisms, which suggests that correcting organelle health is key to ameliorate the DM1 pathology. However, our understanding of the molecular mechanisms of mitochondrial turnover and dynamics in DM1 skeletal muscle is lacking.
View Article and Find Full Text PDFInvolvement 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 PDFColchicine-Induced Acute Myopathy: Case Study From Saudi Arabia.
Cureus
December 2021
Neurology, King Fahad Specialist Hospital, Dammam, SAU.
Colchicine-induced myopathy has been described in patients with chronic renal failure and patients who are using a concomitant drug like a statin. However, pure myopathy caused by colchicine has never been reported in Saudi Arabia. A 64-year-old patient received colchicine for his gout arthritis disease and developed upper and lower limb weakness.
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