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Quoted phrase not found in phrase index: "Emery-Dreifuss muscular dystrophy 4, autosomal dominant"
Page 1
The nuclear envelope in muscular dystrophy and cardiovascular diseases.
Burke B, Mounkes LC, Stewart CL. Burke B, et al. Traffic. 2001 Oct;2(10):675-83. doi: 10.1034/j.1600-0854.2001.21001.x. Traffic. 2001. PMID: 11576443 Free article. Review.
These disorders, described as laminopathies or nuclear envelopathies, include both X-linked and autosomal dominant forms of Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy with conduction system defects, limb girdle muscular …
These disorders, described as laminopathies or nuclear envelopathies, include both X-linked and autosomal dominant forms of …
Current perspective new insights into the molecular basis of familial dilated cardiomyopathy.
Sinagra G, Di Lenarda A, Brodsky GL, Taylor MR, Muntoni F, Pinamonti B, Carniel E, Driussi M, Bristow MR, Mestroni L; Heart Muscle Disease Study Group. Sinagra G, et al. Ital Heart J. 2001 Apr;2(4):280-6. Ital Heart J. 2001. PMID: 11374497 Review.
Several distinct subtypes of familial DCM have been identified. Autosomal dominant DCM is the most frequent form (56% of our cases), and several candidate disease loci have been identified by linkage analysis. ...This latter gene has recently been found to be respon …
Several distinct subtypes of familial DCM have been identified. Autosomal dominant DCM is the most frequent form (56% of our c …
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F. Sewry CA, et al. Neuropathol Appl Neurobiol. 2001 Aug;27(4):281-90. doi: 10.1046/j.0305-1846.2001.00323.x. Neuropathol Appl Neurobiol. 2001. PMID: 11532159
We present our observations on the skeletal muscle pathology of nine cases from seven families of autosomal dominant Emery-Dreifuss muscular dystrophy (ADEDMD) with identified mutations in the lamin A/C gene, aged 2-35 years at the …
We present our observations on the skeletal muscle pathology of nine cases from seven families of autosomal dominant …
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.
Le Thanh P, Meinke P, Korfali N, Srsen V, Robson MI, Wehnert M, Schoser B, Sewry CA, Schirmer EC. Le Thanh P, et al. Neuromuscul Disord. 2017 Apr;27(4):338-351. doi: 10.1016/j.nmd.2016.12.003. Epub 2016 Dec 21. Neuromuscul Disord. 2017. PMID: 28214269 Free PMC article.
Reports of aberrant distribution for some nuclear envelope proteins in cells expressing a few Emery-Dreifuss muscular dystrophy mutations raised the possibility that such protein redistribution could underlie pathology and/or be diagnostic. ...Therefor …
Reports of aberrant distribution for some nuclear envelope proteins in cells expressing a few Emery-Dreifuss muscular …
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.
Emery-Dreifuss muscular dystrophy (EMD) is characterised by (1) early contractures of the Achilles tendons, elbows, and postcervical muscles, (2) slowly progressive muscle wasting and weakness with a predominantly humeroperoneal distribution in the ear …
Emery-Dreifuss muscular dystrophy (EMD) is characterised by (1) early contractures of the Achilles tendons, elbo …
Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.
Park YE, Hayashi YK, Goto K, Komaki H, Hayashi Y, Inuzuka T, Noguchi S, Nonaka I, Nishino I. Park YE, et al. Neuromuscul Disord. 2009 Jan;19(1):29-36. doi: 10.1016/j.nmd.2008.09.018. Epub 2008 Dec 12. Neuromuscul Disord. 2009. PMID: 19070492
Autosomal forms of Emery-Dreifuss muscular dystrophy (AD-/AR-EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are caused by mutations in the gene encoding A-type lamins (LMNA). ...We found that 92.5+/-5.0% of myonuclei had …
Autosomal forms of Emery-Dreifuss muscular dystrophy (AD-/AR-EDMD) and limb-girdle muscular dys …
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE. Jakobs PM, et al. J Card Fail. 2001 Sep;7(3):249-56. doi: 10.1054/jcaf.2001.26339. J Card Fail. 2001. PMID: 11561226
Mutations in lamin A/C cause 4 diseases: Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy type 1B, Dunnigan-type familial partial lipodystrophy, and dilated cardiomyopathy. METHODS AND RESULTS: Two 4-generat …
Mutations in lamin A/C cause 4 diseases: Emery-Dreifuss muscular dystrophy, limb girdle muscular …
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.
Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM. Speckman RA, et al. Am J Hum Genet. 2000 Apr;66(4):1192-8. doi: 10.1086/302836. Am J Hum Genet. 2000. PMID: 10739751 Free PMC article.
Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disorder characterized by marked loss of subcutaneous adipose tissue from the extremities and trunk but by excess fat deposition in the head and neck. ...We have localized a gene for F …
Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disorder characterized by marked loss of sub …
Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration.
Melcon G, Kozlov S, Cutler DA, Sullivan T, Hernandez L, Zhao P, Mitchell S, Nader G, Bakay M, Rottman JN, Hoffman EP, Stewart CL. Melcon G, et al. Hum Mol Genet. 2006 Feb 15;15(4):637-51. doi: 10.1093/hmg/ddi479. Epub 2006 Jan 10. Hum Mol Genet. 2006. PMID: 16403804
Emery-Dreifuss muscular dystrophy (EDMD1) is caused by mutations in either the X-linked gene emerin (EMD) or the autosomal lamin A/C (LMNA) gene. ...We did observe increased transcriptional expression of Lap2alpha and delayed expression o …
Emery-Dreifuss muscular dystrophy (EDMD1) is caused by mutations in either the X-linked gene emerin (EMD) or the …
Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation.
Carboni N, Mura M, Marrosu G, Cocco E, Ahmad M, Solla E, Mateddu A, Maioli MA, Marini S, Nissardi V, Frau J, Mallarini G, Mercuro G, Marrosu MG. Carboni N, et al. Neuromuscul Disord. 2008 Apr;18(4):291-8. doi: 10.1016/j.nmd.2008.01.009. Epub 2008 Mar 11. Neuromuscul Disord. 2008. PMID: 18337098
The case of a family in which several members displayed conduction defects inherited as a dominant trait is reported. The proband was a young woman with a 1st degree atrio-ventricular block and high serum creatine kinase. ...In all mutated individuals muscle MRI featured a …
The case of a family in which several members displayed conduction defects inherited as a dominant trait is reported. The proband was …