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Total 62 results found since Jan 2013.

Myopathic changes in patients with long-term fatigue after COVID-19
CONCLUSIONS: Long-term COVID-19 does not cause large fibre neuropathy, but myopathic changes are seen.SIGNIFICANCE: Myopathy may be an important cause of physical fatigue in long-term COVID-19 even in non-hospitalized patients.PMID:34020890 | PMC:PMC8102077 | DOI:10.1016/j.clinph.2021.04.009
Source: Clinical Neurophysiology - May 22, 2021 Category: Neurology Authors: J Agergaard S Leth T H Pedersen T Harbo J U Blicher P Karlsson L Østergaard H Andersen H Tankisi Source Type: research

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy
Tropomyosins are regulatory proteins located on the thin muscle filaments. They stabilise the thin filaments and control muscle contraction. Four distinct genes, TPM1, TPM2, TPM3 and TPM4, express different isoforms of tropomyosin at a level that varies depending on muscle and fibre type. TPM2, located at 9p13.3, encodes beta-tropomyosin. This gene consists of 9 exons and expresses four isoforms (TPM2.1, TPM2.2, TPM2.3, TPM2.4) through alternative splicing [1]. TPM2 expression is enriched in slow type 1 striated muscle fibres, although, it is expressed in all muscles of the body.
Source: Neuromuscular Disorders - October 1, 2020 Category: Neurology Authors: Schaida Schirwani, Anna Sarkozy, Rahul Phadke, Anne-Marie Childs, Rachael Mein, Azzam Ismail, Audrey Smith, Francesco Muntoni, Hobson Emma, Karen Pysden Source Type: research

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form
ConclusionThis report contributes to expand the clinical and genetic spectrum ofMYH2 myopathies and to increase the awareness of these very rare diseases.
Source: Molecular Genetics & Genomic Medicine - June 23, 2020 Category: Genetics & Stem Cells Authors: Roberta Telese, Serena Pagliarani, Alberto Lerario, Patrizia Ciscato, Gigliola Fagiolari, Denise Cassandrini, Nadia Grimoldi, Giorgio Conte, Claudia Cinnante, Filippo M. Santorelli, Giacomo P. Comi, Monica Sciacco, Lorenzo Peverelli Tags: CLINICAL REPORT Source Type: research

Wild antelope skeletal muscle antioxidant enzyme activities do not correlate with muscle fibre type or oxidative metabolism
Publication date: April 2020Source: Comparative Biochemistry and Physiology Part A: Molecular & Integrative Physiology, Volume 242Author(s): Rodrigo Hohl, Dee M. Blackhurst, Byron Donaldson, Kathryn M. van Boom, Tertius A. KohnAbstractWild antelope are some of the fastest land animals in the world, presenting with high oxidative and glycolytic skeletal muscle metabolism. However, no study has investigated their muscle antioxidant capacity, and may assist in understanding their physical ability and certain pathophysiological manifestations, such as capture myopathy. Therefore, the primary aim of this study was to determine ...
Source: Comparative Biochemistry and Physiology Part A: Molecular and Integrative Physiology - January 5, 2020 Category: Biochemistry Source Type: research

P.77Repurposing of metformin identified as a potential therapy in models of BAG3 myofibrillar myopathy
Dominant de novo mutations in the co-chaperone BAG3 cause a severe form of myofibrillar myopathy, exhibiting progressive muscle weakness, muscle structural failure, and protein aggregation. To identify therapies we generated two zebrafish models, one conditionally expressing BAG3P209L and one with a nonsense mutation in bag3. Whilst transgenic BAG3P209Lexpressing fish display protein aggregation, modelling the early phase of the disease, bag3 −/− fish demonstrate impaired autophagic activity, exercise dependent fibre disintegration, and reduced swimming activity, consistent with later stages.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: A. Ruparelia, E. McKaige, C. Williams, K. Schulze, M. Fuchs, V. Oorschot, E. Lacene, M. Mirella, E. Baxter, Y. Torrente, G. Ramm, T. Stojkovic, J. Lavoi é, R. Bryson-Richardson Source Type: research

P.236Myofibres with subsarcolemmal rims and/or central aggregates of mitochondria (SRCAM) are prevalent in congenital titinopathies
We report a novel structural abnormality prevalent in muscle biopsies from a cohort of patients with clinical and/or pathological features (cores and/or central nuclei and slow fibre predominance) of CM.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: R. Phadke, A. Sarkozy, E. Oates, R. Mein, I. Bodi, L. Feng, A. Manzur, N. Thomas, M. Illingworth, I. Mazanti, S. Ellard, C. Sewry, M. Gautel, H. Jungbluth, F. Muntoni Source Type: research

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy
AbstractNemaline myopathy (NM) is a skeletal muscle disorder caused by mutations in genes that are generally involved in muscle contraction, in particular those related to the structure and/or regulation of the thin filament. Many pathogenic aspects of this disease remain largely unclear. Here, we report novel pathological defects in skeletal muscle fibres of mouse models and patients with NM: irregular spacing and morphology of nuclei; disrupted nuclear envelope; altered chromatin arrangement; and disorganisation of the cortical cytoskeleton. Impairments in contractility are the primary cause of these nuclear defects. We ...
Source: Acta Neuropathologica - June 18, 2019 Category: Neurology Source Type: research

Myositis: Are autoantibodies pathogenic in necrotizing myopathy?
Myositis: Are autoantibodies pathogenic in necrotizing myopathy?, Published online: 12 April 2018; doi:10.1038/nrrheum.2018.54What causes muscle fibre necrosis in necrotizing myopathy? The authors of a new study propose that specific autoantibodies contribute to disease via immune-mediated processes; but given that these processes also occur in muscular dystrophies, how likely is that these antibodies trigger muscle fibre necrosis?
Source: Nature Reviews Rheumatology - April 12, 2018 Category: Rheumatology Authors: Marinos C. Dalakas Source Type: research

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies
ConclusionThe results suggest that variants in RYR3 may cause a recessive muscle disease with pathological features including nemaline bodies. We characterize the expression pattern of RYR3 in human skeletal muscle and brain and the subcellular localization of RYR1 and RYR3 in human skeletal muscle.This article is protected by copyright. All rights reserved.
Source: European Journal of Neurology - March 1, 2018 Category: Neurology Authors: Y Nilipour, S Nafissi, A E Tjust, G Ravenscroft, H Hossein ‐Nejad, R Taylor, V Varasteh, F Pedrosa Domellöf, M Zangi, S H Tonekaboni, M Olivé, K Kiiski, L Sagath, Davis, N Laing, H Tajsharghi Tags: Original Article Source Type: research

Autoimmune necrotising myopathy and HMGCR antibodies.
We describe three cases of HMGCR-related immune-mediated necrotising myopathy, detailing their clinical course and subsequent management, illustrating the spectrum of this disorder. PMID: 29439058 [PubMed - as supplied by publisher]
Source: Practical Neurology - February 8, 2018 Category: Neurology Authors: Karunaratne K, Amiras D, Pickering MC, Hofer M, Viegas S Tags: Pract Neurol Source Type: research

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene
To date, more than 200 different pathogenic variants have been identified in the α-actin 1 gene (ACTA1). The vast majority, over 170 of these disease-causing variants, cause nemaline myopathy (NM), but variants in ACTA1 may cause a wide spectrum of myopathies, clinically varying from lethal fetal akinesia to disorders with mild muscle weakness [1,2]. In addition to NM, ACTA1 my opathies include actin myopathy, cap myopathy, congenital fibre-type disproportion, core-rod myopathy, intranuclear rod myopathy, zebra body myopathy, and progressive scapuloperoneal myopathy.
Source: Neuromuscular Disorders - December 25, 2017 Category: Neurology Authors: Vilma-Lotta Lehtokari, Maria Gardberg, Katarina Pelin, Carina Wallgren-Pettersson Tags: Case report Source Type: research

A new actinopathy – adult onset LGMD
Mutations in ACTA1 gene encoding skeletal muscle α-actin 1 have been recognized as a cause of various muscle diseases, such as nemaline myopathy, actin accumulate myopathy, congenital fibre-type disproportion, cap myopathy and intranuclear rod myopathy. ACTA1 is a highly-conserved gene in muscle, therefore, most mutations in ACTA1 have been patho genic with primarily a dominant mode of action and they have been associated with very severe phenotypes and usually with fatal respiratory involvement in infancy.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: J. Palmio, P. Jonson, M. Savarese, S. Penttil ä, S. Huovinen, M. Lindfors, B. Udd Source Type: research

Identification of therapies for myofibrillar myopathy
Myofibrillar myopathies exhibit progressive muscle weakness and are characterized by structural failure of the muscle at the Z-disk and the formation of cytoplasmic protein aggregates. Mutations in the co-chaperone, and autophagy regulator, BAG3 are known to cause myofibrillar myopathy, with the first identified and most frequent mutation being BAG3P209L. We have previously demonstrated that expression of BAG3P209L is sufficient to cause formation of the characteristic protein aggregates but it is the loss of BAG3 that results in fibre disintegration.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: A. Ruparelia, C. Williams, E. McKaige, V. Oorschot, E. Baxter, K. Schulze, G. Ramm, R. Bryson-Richardson Source Type: research

RYR1-related myopathies: A wide range of clinical phenotypes and pathological histotypes
RYR1 encodes the ryanodine receptor isoform 1, a homotetrameric calcium channel found on the terminal cisternae of the sarcoplasmic reticulum (SR) of skeletal muscle. Dominant and recessive RYR1 mutations have emerged as the most common cause of non-dystrophic inherited neuromuscular disorders, including congenital myopathies (central core disease, multi-minicore disease, centronuclear myopathy, and congenital fibre type disproportion), malignant hyperthermia susceptibility, and exertional rhabdomyolysis.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: A. Frongia, C. Ortez, D. Natera, D. Cortiza Itzep, M. Alarc ón, M. Maioli, A. Maritza Betancourt Suarez, C. Jou, A. Codina, J. Corbera, L. Gonzalez, P. Gallano, J. Colomer, C. Jimenez-Mallebrera, A. Nascimento Source Type: research

Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G > A) gene variant.
CONCLUSION: We confirm the pathogenicity of the rare mitochondrial m.8340G>A variant the basis of single-fibre segregation studies and its association with an expanded clinical phenotype. Our case expands the phenotypic spectrum of diseases associated with mitochondrial tRNA point mutations, highlighting the importance of considering a mitochondrial diagnosis in similar cases presenting to the eye clinic and the importance of further genetic testing if standard mutational analysis does not yield a result. PMID: 28729369 [PubMed - as supplied by publisher]
Source: The British Journal of Ophthalmology - July 20, 2017 Category: Opthalmology Authors: Gill JS, Hardy SA, Blakely EL, Hopton S, Nemeth AH, Fratter C, Poulton J, Taylor RW, Downes SM Tags: Br J Ophthalmol Source Type: research