Results 121 to 130 of about 17,793 (220)

A case report of deglutition triggered atrial fibrillation in a patient with Laing distal myopathy. [PDF]

Eur Heart J Case Rep, 2021
Alvarez CK, Swales H, Kluger J.
europepmc   +1 more source

Miyoshi Myopathy: A Case Report [PDF]

, 2005
We report a 25-year-old man who manifested typical symptoms of Miyoshi myopathy with brief review of literatures. Miyoshi myopathy is a rare distal myopathy which develops between 15 and 30 years of age and starts from the distal muscles, especially ...
최영철
core  

Laing early-onset distal myopathy in a Belgian family

, 2014
We report the first Belgian family with Laing early-onset distal myopathy (MPD1). The proposita started limping at age 7. Later, there was severe weakness of proximal and distal muscles, including neck flexors.
Udd, Bjarne, Lecouvet, F., Schmedding, E., Van den Bergh, P.Y.K., Lecouvet, Frédéric, Martin, Jean Jacques R, Van den Bergh, Peter, Udd, B., Schmedding, Eric, Martin, Jean-Jacques   +9 more
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A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores. [PDF]

CNS Neurosci Ther, 2021
Chen L, Chen DF, Dong HL, Liu GL, Wu ZY.
europepmc   +1 more source

Distal Myopathy [PDF]

Proceedings of the Royal Society of Medicine, 1913
openaire   +2 more sources

Out-of-Frame Mutations in <i>ACTN2</i> Last Exon Cause a Dominant Distal Myopathy With Facial Weakness. [PDF]

Neurol Genet, 2021
Savarese M, Vihola A, Jokela ME, Huovinen SP, Gerevini S, Torella A, Johari M, Scarlato M, Jonson PH, Onore ME, Hackman P, Gautel M, Nigro V, Previtali SC, Udd B.   +14 more
europepmc   +1 more source

Dynamics of T-Cell Intracellular Antigen 1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy under Oxidative Stress. [PDF]

Cells, 2022
Fernández-Gómez A, Velasco BR, Izquierdo JM.   +2 more
europepmc   +1 more source

Early onset chromosome 14-linked distal myopathy (Laing)

, 2002
A dominantly inherited form of distal myopathy with onset in early childhood was first reported in a 4-generation Australian family in 1995. In the present report we provide further information on the clinical phenotype and natural history of this ...
Mastaglia, F.L., Laing, N.G., Meredith, C., Egli, S., Akkari, P.A., Cala, L.A., Phillips, B.A.   +6 more
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Laing early onset distal myopathy: slow mysosin defect with variable abnormalities on muscle biopsy

, 2006
Background: Laing early onset distal myopathy (MPD1) is an autosomal dominant myopathy caused by mutations within the slow skeletal muscle fibre myosin heavy chain gene, MYH7.
Mastaglia, F.L., Laing, N.G., Bridges, L. R., Rozemuller, A., DeVisser, M., Voit, T., Mastaglia, F. L., Lamont, P. J., Lamont, P.J., Bridges, L.R., de Visser, M., Laing, N. G., Fabian, V., Hedera, P., Udd, B.   +14 more
core   +1 more source

A therapeutic leap: how myosin inhibitors moved from cardiac interventions to skeletal muscle myopathy solutions

The Journal of Clinical Investigation
The myosin inhibitor mavacamten has transformed the management of obstructive hypertrophic cardiomyopathy (HCM) by targeting myosin ATPase activity to mitigate cardiac hypercontractility.
Julius Bogomolovas, Ju Chen
doaj   +1 more source