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Quoted phrase not found in phrase index: "Myofibrillar myopathy 3"
Page 1
Metformin rescues muscle function in BAG3 myofibrillar myopathy models.
Ruparelia AA, McKaige EA, Williams C, Schulze KE, Fuchs M, Oorschot V, Lacene E, Meregalli M, Lee C, Serrano RJ, Baxter EC, Monro K, Torrente Y, Ramm G, Stojkovic T, Lavoie JN, Bryson-Richardson RJ. Ruparelia AA, et al. Autophagy. 2021 Sep;17(9):2494-2510. doi: 10.1080/15548627.2020.1833500. Epub 2020 Oct 19. Autophagy. 2021. PMID: 33030392 Free PMC article.
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 elucidate the mechanism of disease in, and identify therapies for, BAG3 …
Dominant de novo mutations in the co-chaperone BAG3 cause a severe form of myofibrillar myopathy, exhibiting progressive muscl …
BAG3 myopathy is not always associated with cardiomyopathy.
Andersen AG, Fornander F, Schrøder HD, Krag T, Straub V, Duno M, Vissing J. Andersen AG, et al. Neuromuscul Disord. 2018 Sep;28(9):798-801. doi: 10.1016/j.nmd.2018.06.019. Epub 2018 Jul 5. Neuromuscul Disord. 2018. PMID: 30061062
Bag3opathy is a rare myofibrillar myopathy (MFM) caused by a mutation in the Bcl-2 associated-athanogene-3 gene. ...This case illustrates that counseling of patients with BAG3 myopathy should not predict an inevitable occurrence of cardiomyopathy....
Bag3opathy is a rare myofibrillar myopathy (MFM) caused by a mutation in the Bcl-2 associated-athanogene-3 gene. ...Thi …
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS. Yogev Y, et al. Eur J Hum Genet. 2017 Aug;25(8):966-972. doi: 10.1038/ejhg.2017.85. Epub 2017 May 10. Eur J Hum Genet. 2017. PMID: 28488683 Free PMC article.
Genome-wide linkage analysis identified a 6.7Mbp disease-associated locus on chromosome 3q21.3-3q22.2 (LOD score 9.02; D3S1290). Whole-exome sequencing identified a single homozygous variant within this locus, c.51_52ins(28); p....KY encodes a tranglutaminase-like p …
Genome-wide linkage analysis identified a 6.7Mbp disease-associated locus on chromosome 3q21.3-3q22.2 (LOD score 9.02; D3S1290 …
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.
Melberg A, Oldfors A, Blomström-Lundqvist C, Stålberg E, Carlsson B, Larrson E, Lidell C, Eeg-Olofsson KE, Wikström G, Henriksson G, Dahl N. Melberg A, et al. Ann Neurol. 1999 Nov;46(5):684-92. doi: 10.1002/1531-8249(199911)46:5<684::aid-ana2>3.0.co;2-#. Ann Neurol. 1999. PMID: 10970245
Linkage analysis of candidate chromosomal regions showed a maximum 2-point LOD score of 2.76 for marker locus D10S1752 on chromosome 10q. A multipoint peak LOD score of 3.06 between markers D10S605 and D10S215 suggests linkage to chromosome 10q22.3, an …
Linkage analysis of candidate chromosomal regions showed a maximum 2-point LOD score of 2.76 for marker locus D10S1752 on chromosome …
Expression, localization and functional divergence of alphaB-crystallin and heat shock protein 27 in core myopathies and neurogenic atrophy.
Fischer D, Matten J, Reimann J, Bönnemann C, Schröder R. Fischer D, et al. Acta Neuropathol. 2002 Sep;104(3):297-304. doi: 10.1007/s00401-002-0559-z. Epub 2002 Jun 8. Acta Neuropathol. 2002. PMID: 12172916
The essential role of shsps in human neuromuscular disorders is highlighted by the observation that a mutation of the human alphaBC gene causes an autosomal dominant "myofibrillar myopathy" characterized by alphaBC and desmin accumulation. ...
The essential role of shsps in human neuromuscular disorders is highlighted by the observation that a mutation of the human alphaBC g …
BAG3 mutations: another cause of giant axonal neuropathy.
Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM. Jaffer F, et al. J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x. J Peripher Nerv Syst. 2012. PMID: 22734908
Mutations in Bcl-2 associated athanogene-3 (BAG3) are a rare cause of myofibrillar myopathy, characterised by rapidly progressive proximal and axial myopathy, cardiomyopathy and respiratory compromise. Neuropathy has been documented neurophysiologically in pr …
Mutations in Bcl-2 associated athanogene-3 (BAG3) are a rare cause of myofibrillar myopathy, characterised by rapidly p …
Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases.
Olivé M, Goldfarb L, Dagvadorj A, Sambuughin N, Paulin D, Li Z, Goudeau B, Vicart P, Ferrer I. Olivé M, et al. Acta Neuropathol. 2003 Jul;106(1):1-7. doi: 10.1007/s00401-003-0695-0. Epub 2003 Apr 1. Acta Neuropathol. 2003. PMID: 12669240
In the present study, the distribution of synemin was examined using immunohistochemistry in muscle biopsy specimens from patients suffering from myofibrillar myopathy (MM, n=6), dermatomyositis (DM, n=3), inclusion body myositis (IBM, n=5), oculopharyngeal m …
In the present study, the distribution of synemin was examined using immunohistochemistry in muscle biopsy specimens from patients suffering …
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.
Scarpini G, Valentino ML, Giannotta M, Ragni L, Torella A, Columbaro M, Nigro V, Pini A. Scarpini G, et al. Acta Myol. 2021 Dec 31;40(4):177-183. doi: 10.36185/2532-1900-061. eCollection 2021 Dec. Acta Myol. 2021. PMID: 35047758 Free PMC article.
They may be caused by mutations in different genes, among these, the BAG3 gene (Bcl-2 associed-athanogene-3) encodes a multidomain protein that plays an important role in many cellular processes. We report the case of a 16-year-old male who at 4 years of age presented with …
They may be caused by mutations in different genes, among these, the BAG3 gene (Bcl-2 associed-athanogene-3) encodes a multidomain pr …
The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.
Gontier Y, Taivainen A, Fontao L, Sonnenberg A, van der Flier A, Carpen O, Faulkner G, Borradori L. Gontier Y, et al. J Cell Sci. 2005 Aug 15;118(Pt 16):3739-49. doi: 10.1242/jcs.02484. Epub 2005 Aug 2. J Cell Sci. 2005. PMID: 16076904
The essential role of myotilin in skeletal muscle is attested by the observation that certain forms of myofibrillar myopathy and limb girdle muscular dystrophy are caused by mutations in the human myotilin gene. Here we show by transfection, biochemical and/o …
The essential role of myotilin in skeletal muscle is attested by the observation that certain forms of myofibrillar myopath …
Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI.
Carroll LS, Walker M, Allen D, Marini-Bettolo C, Ditchfield A, Pinto AA, Hammans SR. Carroll LS, et al. Neuromuscul Disord. 2021 Mar;31(3):249-252. doi: 10.1016/j.nmd.2020.12.013. Epub 2021 Jan 8. Neuromuscul Disord. 2021. PMID: 33546848
A heterozygous missense variant c.17C>G (p.Ser6Trp) was identified within DES, predicted to be pathogenic in silico and previously described in a family with distal limb weakness. ...
A heterozygous missense variant c.17C>G (p.Ser6Trp) was identified within DES, predicted to be pathogenic in silico and previously …
11 results