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Total 140 results found since Jan 2013.

Nemaline Rod/Cap Myopathy Due to Novel Homozygous < em > MYPN < /em > Mutations: The First Report from South Asia and Comprehensive Literature Review
CONCLUSIONS: This study elaborates on two patients with homozygous MYPN pathogenic variants, presenting as slowly progressive congenital myopathy. These patients are only the tenth and eleventh cases reported in the English literature, and the first from South Asia. The clinical phenotype reiterates the mild form of nemaline rod/cap myopathy. A comprehensive literature review is presented.PMID:34184449 | PMC:PMC8242322 | DOI:10.3988/jcn.2021.17.3.409
Source: Journal of Clinical Neurology - June 29, 2021 Category: Neurology Authors: Kiran Polavarapu Mainak Bardhan Ram Murthy Anjanappa Seena Vengalil Veeramani Preethish-Kumar Leena Shingavi Tanushree Chawla Saraswati Nashi Dhaarini Mohan Gautham Arunachal Thenral S Geetha Vedam Ramprasad Atchayaram Nalini Source Type: research

Atrial premature activity detected after an ischaemic stroke unveils atrial myopathy.
CONCLUSIONS: After an ischaemic stroke or a transient ischaemic attack, excessive APCs are associated with LA remodelling. Thus, LA dilatation and dysfunction reflect early LA myopathy, which might itself be responsible for cardioembolic stroke. PMID: 32007362 [PubMed - as supplied by publisher]
Source: Archives of Cardiovascular Diseases - January 28, 2020 Category: Cardiology Authors: Py A, Schaaf M, Duhamel S, Si-Mohamed S, Daher J, Altman M, de Breyne B, Mechtouff L, Placide J, Chauveau S, Chevalier P, Nighoghossian N, Bergerot C, Thibault H Tags: Arch Cardiovasc Dis Source Type: research

Filamin c missense variant associated with severe right atrial disease and skeletal myopathy
ConclusionFilamin C missense variant (c.925G>A p.(Glu309Lys) is associated with severe right atrial disease. Considering co-segregation with the disease (PP1 Supporting), this variant should be classified as likely pathogenic.This article is protected by copyright. All rights reserved.
Source: Journal of Cardiovascular Electrophysiology - August 19, 2021 Category: Cardiology Authors: Giulio Conte, Flavia Piciacchia, Argelia Medeiros Domingo, Susanna Grego, Paolo Ripellino, Angelo Auricchio Tags: BRIEF COMMUNICATION Source Type: research

Andersen–Tawil Syndrome With Early Fixed Myopathy
We present a 19-year-old man with characteristic skeletal dysmorphic features of ATS, early nonfluctuating proximal lower limb weakness from childhood, and neonatal focal seizures. He later developed fluctuating weakness in addition to a fixed proximal myopathy. A 12-lead electrocardiogram showed prominent “U” waves, and McManis protocol prolonged exercise test showed an unusually early decline in the compound motor action potential amplitude by 51%. Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS. This is the first reported case of ATS in an Irish population with an unusua...
Source: Journal of Clinical Neuromuscular Disease - November 22, 2014 Category: Neurology Tags: Case Review Source Type: research

Pilot study of safety and efficacy of polyprenols in combination with coenzyme Q10 in patients with statin-induced myopathy.
CONCLUSIONS: Conifer-tree polyprenols in combination with CoQ10 may be generally safe in patients with SIM, but caution should be exercised in patients with glomerular filtration rate <60mL/min and routine monitoring of the liver enzymes and CK is advocated in all patients. The observed efficacy provides the rationale for a larger, double-blind controlled study with polyprenols. PMID: 27496187 [PubMed - in process]
Source: Medicina (Kaunas) - August 10, 2016 Category: Universities & Medical Training Authors: Latkovskis G, Saripo V, Sokolova E, Upite D, Vanaga I, Kletnieks U, Erglis A Tags: Medicina (Kaunas) Source Type: research

Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging.
We present a case of a patient with MM incidentally diagnosed with concomitant cardiomyopathy. PMID: 33518658 [PubMed - in process]
Source: International Heart Journal - February 2, 2021 Category: Cardiology Tags: Int Heart J Source Type: research