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Myofibrillar myopathies.
Selcen D. Selcen D. Curr Opin Neurol. 2008 Oct;21(5):585-9. doi: 10.1097/WCO.0b013e32830a752b. Curr Opin Neurol. 2008. PMID: 18769253 Free PMC article. Review.
RECENT FINDINGS: The most important recent advance in the myofibrillar myopathies has been the discovery that mutations in Z band alternatively spliced PDZ-containing protein and filamin C, as well as in desmin, alphaB-crystallin and myotilin, result in similar pathologic alterat …
RECENT FINDINGS: The most important recent advance in the myofibrillar myopathies has been the discovery that mutations in Z band alternativ …
Myofibrillar myopathy.
Engel AG. Engel AG. Ann Neurol. 1999 Nov;46(5):681-3. doi: 10.1002/1531-8249(199911)46:5<681::aid-ana1>3.0.co;2-b. Ann Neurol. 1999. PMID: 10553983 Review. No abstract available.
Myofibrillar myopathy in the genomic context.
Fichna JP, Maruszak A, Żekanowski C. Fichna JP, et al. J Appl Genet. 2018 Nov;59(4):431-439. doi: 10.1007/s13353-018-0463-4. Epub 2018 Sep 10. J Appl Genet. 2018. PMID: 30203143 Review.
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal accumulation of degradation products. ...
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal acc …
New aspects of myofibrillar myopathies.
Kley RA, Olivé M, Schröder R. Kley RA, et al. Curr Opin Neurol. 2016 Oct;29(5):628-34. doi: 10.1097/WCO.0000000000000357. Curr Opin Neurol. 2016. PMID: 27389816 Review.
Myofibrillar myopathies: new developments.
Olivé M, Kley RA, Goldfarb LG. Olivé M, et al. Curr Opin Neurol. 2013 Oct;26(5):527-35. doi: 10.1097/WCO.0b013e328364d6b1. Curr Opin Neurol. 2013. PMID: 23995273 Free PMC article. Review.
Diagnosis of muscle diseases presenting with early respiratory failure.
Pfeffer G, Povitz M, Gibson GJ, Chinnery PF. Pfeffer G, et al. J Neurol. 2015 May;262(5):1101-14. doi: 10.1007/s00415-014-7526-1. Epub 2014 Nov 7. J Neurol. 2015. PMID: 25377282 Review.
Disorders which have recently had their genetic aetiologies identified include hereditary myopathy with early respiratory failure (due to TTN mutations), the FHL1-related syndromes, and myofibrillar myopathy due to BAG3 mutation. Recently described syndromes include …
Disorders which have recently had their genetic aetiologies identified include hereditary myopathy with early respiratory failure (due to TT …
Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.
Akaba Y, Takeguchi R, Tanaka R, Makita Y, Kimura T, Yanagi K, Kaname T, Nishino I, Takahashi S. Akaba Y, et al. J Clin Neuromuscul Dis. 2022 Sep 1;24(1):49-54. doi: 10.1097/CND.0000000000000392. J Clin Neuromuscul Dis. 2022. PMID: 36005473 Review.
Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 (BAG3)-related myopathy is the rarest form of myofibrillar myopathy. Patients with B …
Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar de …
Myopathies resulting from mutations in sarcomeric proteins.
Bönnemann CG, Laing NG. Bönnemann CG, et al. Curr Opin Neurol. 2004 Oct;17(5):529-37. doi: 10.1097/00019052-200410000-00003. Curr Opin Neurol. 2004. PMID: 15367857 Review.
RECENT FINDINGS: Recent findings include: the beginnings of an understanding of the role of the sarcomere in controlling muscle gene expression; the theoretical analysis of the increasing number of mutations identified in the skeletal muscle actin gene; the identification of muta …
RECENT FINDINGS: Recent findings include: the beginnings of an understanding of the role of the sarcomere in controlling muscle gene express …
Role of the Alpha-B-Crystallin Protein in Cardiomyopathic Disease.
Thorkelsson A, Chin MT. Thorkelsson A, et al. Int J Mol Sci. 2024 Feb 29;25(5):2826. doi: 10.3390/ijms25052826. Int J Mol Sci. 2024. PMID: 38474073 Free PMC article. Review.
Naturally occurring mutations in CRYAB, the gene that encodes alpha-B-crystallin, have been suggested to alter ionic intermolecular interactions that affect dimerization and chaperone function. These mutations have been associated with myofibrillar myopathy, restric …
Naturally occurring mutations in CRYAB, the gene that encodes alpha-B-crystallin, have been suggested to alter ionic intermolecular interact …
End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.
Katzberg H, Karamchandani J, So YT, Vogel H, Wang CH. Katzberg H, et al. J Child Neurol. 2010 Nov;25(11):1382-8. doi: 10.1177/0883073810367683. Epub 2010 May 5. J Child Neurol. 2010. PMID: 20445193 Review.
The authors reviewed medical records from 2003 to 2008 on patients attending their neuromuscular clinic and identified patients who initially presented with an end-stage cardiomyopathy and were later diagnosed with a specific muscle disease through muscle biopsy. They report 5 …
The authors reviewed medical records from 2003 to 2008 on patients attending their neuromuscular clinic and identified patients who initiall …