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Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene.
Kress W, Müller E, Kausch K, Kullmann F, Mostacciuolo ML, Rietschel M, Rotthauwe HW, Schmalenberger B, Siciliano G, Voit T, et al. Kress W, et al. Neuromuscul Disord. 1992;2(2):111-5. doi: 10.1016/0960-8966(92)90042-5. Neuromuscul Disord. 1992. PMID: 1422197 Review.
The clinical features to establish the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EMD) were recently redefined at the European EMD workshop in Baarn 1991. ...Multipoint linkage analysis indicates with a maximum location s …
The clinical features to establish the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EM …
Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case.
Ishikawa K, Mimuro M, Tanaka T. Ishikawa K, et al. Intern Med. 2011;50(5):459-62. doi: 10.2169/internalmedicine.50.4598. Epub 2011 Mar 1. Intern Med. 2011. PMID: 21372459 Free article.
Emery-Dreifuss muscular dystrophy (EDMD) is a distinctive form of muscular dystrophy which is often associated with cardiac abnormalities. Conduction disturbances are frequently observed, and may necessitate pacemaker implantation to prevent sudden death. ...
Emery-Dreifuss muscular dystrophy (EDMD) is a distinctive form of muscular dystrophy which is often associated with cardiac abnormalities. C …
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy.
Meinke P, Schneiderat P, Srsen V, Korfali N, Lê Thành P, Cowan GJ, Cavanagh DR, Wehnert M, Schirmer EC, Walter MC. Meinke P, et al. Neuromuscul Disord. 2015 Feb;25(2):127-36. doi: 10.1016/j.nmd.2014.09.012. Epub 2014 Oct 6. Neuromuscul Disord. 2015. PMID: 25454731 Free PMC article.
Patient blood cells were predominantly emerin-positive, but considerable nuclear lobulation was observed in non-granulocyte cells - a novel phenotype in EDMD. Both emerin-positive and emerin-negative myoblasts exhibited spontaneous differentiation in tissue culture, though …
Patient blood cells were predominantly emerin-positive, but considerable nuclear lobulation was observed in non-granulocyte cells - a …
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.
Yates JR, Warner JP, Smith JA, Deymeer F, Azulay JP, Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J, Affara NA, Ferguson-Smith MA. Yates JR, et al. J Med Genet. 1993 Feb;30(2):108-11. doi: 10.1136/jmg.30.2.108. J Med Genet. 1993. PMID: 8445613 Free PMC article.
Family linkage studies have mapped X linked EMD to the distal long arm of the X chromosome but precise genetic localisation has been hampered by the rarity of this condition. We report three new families with X linked Emery-Dreifuss muscular …
Family linkage studies have mapped X linked EMD to the distal long arm of the X chromosome but precise genetic localisation has been hampere …
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.
Chen T, Lu X, Shi Q, Guo J, Wang H, Wang Q, Yin X, Zhang Y, Pu C, Zhou D. Chen T, et al. Neuromuscul Disord. 2020 Feb;30(2):165-172. doi: 10.1016/j.nmd.2019.11.011. Epub 2019 Nov 28. Neuromuscul Disord. 2020. PMID: 32001145
FHL1-related myopathies, including reducing body myopathy (RBM), X-linked scapulo-axio-peroneal myopathy, rigid spine syndrome, X-linked myopathy with postural muscle atrophy (XMPMA), X-linked Emery-Dreifuss muscular dystrophy and hypertr …
FHL1-related myopathies, including reducing body myopathy (RBM), X-linked scapulo-axio-peroneal myopathy, rigid spine syndrome, X-linked myo …
The Emery-Dreifuss muscular dystrophy associated-protein emerin is phosphorylated on serine 49 by protein kinase A.
Roberts RC, Sutherland-Smith AJ, Wheeler MA, Jensen ON, Emerson LJ, Spiliotis II, Tate CG, Kendrick-Jones J, Ellis JA. Roberts RC, et al. FEBS J. 2006 Oct;273(19):4562-75. doi: 10.1111/j.1742-4658.2006.05464.x. FEBS J. 2006. PMID: 16972941 Free article.
Emerin is a ubiquitously expressed inner nuclear membrane protein of unknown function. Mutations in its gene give rise to X-linked Emery-Dreifuss muscular dystrophy (X-EDMD), a neuromuscular condition with an associated life-threatening c …
Emerin is a ubiquitously expressed inner nuclear membrane protein of unknown function. Mutations in its gene give rise to X-linked …
Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties.
Herrada I, Samson C, Velours C, Renault L, Östlund C, Chervy P, Puchkov D, Worman HJ, Buendia B, Zinn-Justin S. Herrada I, et al. ACS Chem Biol. 2015 Dec 18;10(12):2733-42. doi: 10.1021/acschembio.5b00648. Epub 2015 Oct 5. ACS Chem Biol. 2015. PMID: 26415001 Free PMC article.
More than 100 genetic mutations causing X-linked Emery-Dreifuss muscular dystrophy have been identified in the gene encoding the integral inner nuclear membrane protein emerin. ...Increases in concentration and temperature favor the forma …
More than 100 genetic mutations causing X-linked Emery-Dreifuss muscular dystrophy have been ident …
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.
Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K. Nagano A, et al. Nat Genet. 1996 Mar;12(3):254-9. doi: 10.1038/ng0396-254. Nat Genet. 1996. PMID: 8589715
Mutations in the STA gene at the Xq28 locus have been found in patients with X-linked Emery-Dreifuss muscular dystrophy (EDMD). This gene encodes a hitherto unknown protein named 'emerin'. ...In contrast, a deficiency in immunofluorescent …
Mutations in the STA gene at the Xq28 locus have been found in patients with X-linked Emery-Dreifuss muscular …
Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction.
Ishikawa T, Mishima H, Barc J, Takahashi MP, Hirono K, Terada S, Kowase S, Sato T, Mukai Y, Yui Y, Ohkubo K, Kimoto H, Watanabe H, Hata Y, Aiba T, Ohno S, Chishaki A, Shimizu W, Horie M, Ichida F, Nogami A, Yoshiura KI, Schott JJ, Makita N. Ishikawa T, et al. Circ Arrhythm Electrophysiol. 2020 Oct;13(10):e008712. doi: 10.1161/CIRCEP.120.008712. Epub 2020 Jul 29. Circ Arrhythm Electrophysiol. 2020. PMID: 32755394
All 6 male EMD mutation carriers of 4 families underwent pacemaker or defibrillator implantation, whereas 2 female carriers were asymptomatic. Notably, a strong family history of stroke observed in these families was probably due to the increased risk of thromboembolism at …
All 6 male EMD mutation carriers of 4 families underwent pacemaker or defibrillator implantation, whereas 2 female carriers were asymptomati …
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
Ellis JA, Yates JR, Kendrick-Jones J, Brown CA. Ellis JA, et al. Hum Genet. 1999 Mar;104(3):262-8. doi: 10.1007/s004390050946. Hum Genet. 1999. PMID: 10323252
We present here the effect, on emerin protein expression, of two missense mutations identified in unrelated EDMD patients. These alterations predict the replacement of a proline residue at position 183 with either a histidine or a threonine. ...
We present here the effect, on emerin protein expression, of two missense mutations identified in unrelated EDMD patients. These alterations …
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