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Year Number of Results
1977 1
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2004 5
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171 results

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Page 1
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y, Peng L, Zhao C. Gao Y, et al. Mol Cell Biochem. 2024 Feb;479(2):393-417. doi: 10.1007/s11010-023-04735-x. Epub 2023 Apr 20. Mol Cell Biochem. 2024. PMID: 37079208 Review.
These disorders display significantly inter- and intra-familial variability, sometimes developing complex phenotypes, including both cardiomyopathy and skeletal myopathy. Here, we review the current understanding on MYH7 with the aim to better clarify how mutations …
These disorders display significantly inter- and intra-familial variability, sometimes developing complex phenotypes, including both cardiom …
Hereditary myopathies associated with hematological abnormalities.
Beecher G, Fleming MD, Liewluck T. Beecher G, et al. Muscle Nerve. 2022 Apr;65(4):374-390. doi: 10.1002/mus.27474. Epub 2022 Jan 5. Muscle Nerve. 2022. PMID: 34985130 Review.
Neutropenia, chronic or cyclical, with recurrent infections, infantile-to-childhood onset skeletal myopathy and cardiomyopathy are typical of Barth syndrome, while chronic neutropenia without infection occurs rarely in DNM2-centronuclear myopathy. ...
Neutropenia, chronic or cyclical, with recurrent infections, infantile-to-childhood onset skeletal myopathy and cardiomyopathy …
Barth syndrome.
Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Clarke SL, et al. Orphanet J Rare Dis. 2013 Feb 12;8:23. doi: 10.1186/1750-1172-8-23. Orphanet J Rare Dis. 2013. PMID: 23398819 Free PMC article. Review.
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). ...
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), …
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L. Ortiz-Genga MF, et al. J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. J Am Coll Cardiol. 2016. PMID: 27908349 Free article.
The phenotype consisted of left ventricular dilation (68%), systolic dysfunction (46%), and myocardial fibrosis (67%); inferolateral negative T waves and low QRS voltages on electrocardiography (33%); ventricular arrhythmias (82%); and frequent sudden cardiac death (40 cases in 2 …
The phenotype consisted of left ventricular dilation (68%), systolic dysfunction (46%), and myocardial fibrosis (67%); inferolateral negativ …
Desmin myopathy.
Goldfarb LG, Vicart P, Goebel HH, Dalakas MC. Goldfarb LG, et al. Brain. 2004 Apr;127(Pt 4):723-34. doi: 10.1093/brain/awh033. Epub 2004 Jan 14. Brain. 2004. PMID: 14724127 Review.
Typically, the illness presents with lower limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial, bulbar and respiratory muscles. Skeletal myopathy is often combined with cardiomyopathy manifested by conduction blocks and arrhythmias resultin …
Typically, the illness presents with lower limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial, bulbar and respira …
Chloroquine-induced cardiomyopathy.
McAllister HA Jr, Ferrans VJ, Hall RJ, Strickman NE, Bossart MI. McAllister HA Jr, et al. Arch Pathol Lab Med. 1987 Oct;111(10):953-6. Arch Pathol Lab Med. 1987. PMID: 2957973
These deposits were similar to those reported in chloroquine-induced skeletal myopathy and were considered to represent evidence of chloroquine-induced cardiotoxicity rather than a cardiovascular manifestation of the underlying disease. ...
These deposits were similar to those reported in chloroquine-induced skeletal myopathy and were considered to represent eviden …
Vici syndrome: a review.
Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H. Byrne S, et al. Orphanet J Rare Dis. 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. Orphanet J Rare Dis. 2016. PMID: 26927810 Free PMC article. Review.
In most patients there is additional variable multisystem involvement that may affect virtually any organ system, including lungs, thyroid, liver and kidneys. A skeletal myopathy is consistently associated, and characterized by marked fibre type disproportion, incre …
In most patients there is additional variable multisystem involvement that may affect virtually any organ system, including lungs, thyroid, …
The roles of PARK gene family in myopathy.
Zhang S, Guo SS, Wang RW, Ma RY, Wu XM, Chen PJ, Wang R. Zhang S, et al. Yi Chuan. 2022 Jul 20;44(7):545-555. doi: 10.16288/j.yczz.22-105. Yi Chuan. 2022. PMID: 35858767 Review.
The causative gene family of Parkinson's disease, PARK, plays important roles in the regulation of skeletal myopathy and is also involved in multiple biological processes, such as the modification of motor neurons, the transmission of nerve signals at the nerve-musc …
The causative gene family of Parkinson's disease, PARK, plays important roles in the regulation of skeletal myopathy and is al …
Eponym: Barth syndrome.
Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T. Takeda A, et al. Eur J Pediatr. 2011 Nov;170(11):1365-7. doi: 10.1007/s00431-011-1575-6. Epub 2011 Sep 23. Eur J Pediatr. 2011. PMID: 21947198 Review.
Barth syndrome (OMIM #302060) (BTHS) is an X-linked disorder of lipid metabolism characterized by skeletal myopathy, neutropenia, growth delay, and cardiomyopathy. It is caused by mutations in the tafazzin gene (TAZ), which lead to decreased production of an enzyme …
Barth syndrome (OMIM #302060) (BTHS) is an X-linked disorder of lipid metabolism characterized by skeletal myopathy, neutropen …
Danon disease: focusing on heart.
Cheng Z, Fang Q. Cheng Z, et al. J Hum Genet. 2012 Jul;57(7):407-10. doi: 10.1038/jhg.2012.72. Epub 2012 Jun 14. J Hum Genet. 2012. PMID: 22695892 Review.
Danon disease is a rare X-linked dominant lysosomal disease due to the primary deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. Cardiomyopathy, skeletal myopathy and mental retardation are the typical triad of Danon disease. ...
Danon disease is a rare X-linked dominant lysosomal disease due to the primary deficiency of lysosome-associated membrane protein 2 (LAMP2) …
171 results