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Myofibrillar myopathies.
Selcen D. Selcen D. Neuromuscul Disord. 2011 Mar;21(3):161-71. doi: 10.1016/j.nmd.2010.12.007. Epub 2011 Jan 20. Neuromuscul Disord. 2011. PMID: 21256014 Free PMC article. Review.
The generic diagnosis of myofibrillar myopathies is based on muscle biopsy findings in frozen sections. To date, all myofibrillar myopathy mutations have been traced to Z-disk-associated proteins, namely, desmin, alphaB-crystallin, myotilin, ZASP, filamin C and Bag3 …
The generic diagnosis of myofibrillar myopathies is based on muscle biopsy findings in frozen sections. To date, all myofibrillar
Distal myopathies.
Dimachkie MM, Barohn RJ. Dimachkie MM, et al. Neurol Clin. 2014 Aug;32(3):817-42, x. doi: 10.1016/j.ncl.2014.04.004. Epub 2014 May 15. Neurol Clin. 2014. PMID: 25037092 Free PMC article. Review.
Distal Myopathies.
Felice KJ. Felice KJ. Neurol Clin. 2020 Aug;38(3):637-659. doi: 10.1016/j.ncl.2020.03.007. Epub 2020 Jun 11. Neurol Clin. 2020. PMID: 32703474 Review.
Myofibrillar myopathies.
Claeys KG, Fardeau M. Claeys KG, et al. Handb Clin Neurol. 2013;113:1337-42. doi: 10.1016/B978-0-444-59565-2.00005-8. Handb Clin Neurol. 2013. PMID: 23622358 Review.
The causative genes encode mainly sarcomeric Z-disk(-related) proteins: desmin, alphaB-crystallin, myotilin, Z-band alternatively spliced PDZ motif containing protein (ZASP), filamin C and the antiapoptotic BCL2-associated athanogene 3 (Bag3). Although in most MFM patients …
The causative genes encode mainly sarcomeric Z-disk(-related) proteins: desmin, alphaB-crystallin, myotilin, Z-band alternatively spliced PD …
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. ...
Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar de
Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review.
Ehsani E, Khamirani HJ, Abbasi Z, Gohari M, Zoghi S, Mohammadi S, Dianatpour M, Tabei SMB, Mohamadjani O, Dastgheib SA. Ehsani E, et al. Eur J Med Genet. 2022 Aug;65(8):104552. doi: 10.1016/j.ejmg.2022.104552. Epub 2022 Jun 22. Eur J Med Genet. 2022. PMID: 35752288 Review.
KY is located on chromosome 3 and encodes a transglutaminase-like protein in the skeletal muscles, namely Kyphoscoliosis Peptidase. KY is primarily involved in the formation and stabilization of neuromuscular intersections making it essential for the development of the mus …
KY is located on chromosome 3 and encodes a transglutaminase-like protein in the skeletal muscles, namely Kyphoscoliosis Peptidase. K …
Distal Myopathies: Case Studies.
Shaibani A. Shaibani A. Neurol Clin. 2016 Aug;34(3):547-64. doi: 10.1016/j.ncl.2016.04.014. Neurol Clin. 2016. PMID: 27445241 Review.
Profuse spontaneous discharges are common in inflammatory, metabolic, and myofibrillar myopathy (MFM). If the clinical picture indicates a specific disease such as facioscapulohumeral muscular dystrophy (FSHD), genetic testing provides the quickest diagnosis. ...
Profuse spontaneous discharges are common in inflammatory, metabolic, and myofibrillar myopathy (MFM). If the clinical picture …
Anesthetic considerations in myofibrillar myopathy.
Latham GJ, Lopez G. Latham GJ, et al. Paediatr Anaesth. 2015 Mar;25(3):231-8. doi: 10.1111/pan.12516. Epub 2014 Sep 12. Paediatr Anaesth. 2015. PMID: 25216331 Review.
Myofibrillar myopathy (MFM) is a relatively newly recognized genetic disease that leads to progressive muscle deterioration. ...
Myofibrillar myopathy (MFM) is a relatively newly recognized genetic disease that leads to progressive muscle deterioration. .
BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review.
Malatesta L, Arya K, Gokden M, Stefans V, Veerapandiyan A. Malatesta L, et al. J Clin Neuromuscul Dis. 2020 Jun;21(4):230-239. doi: 10.1097/CND.0000000000000300. J Clin Neuromuscul Dis. 2020. PMID: 32453099 Review.
Bcl-2-associated athanogene 3 (BAG3) myopathy is a rare myofibrillar myopathy characterized by toe walking and clumsiness in the first decade with rapid progression to cardiomyopathy and restrictive lung disease in the second decade. ...Whole exome sequencing …
Bcl-2-associated athanogene 3 (BAG3) myopathy is a rare myofibrillar myopathy characterized by toe walking and clumsine …