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Emery Dreifuss Muscular Dystrophy

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Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.

Anne T Bertrand, Astrid Brull, Feriel Azibani, Louise Benarroch, Khadija Chikhaoui, Colin L Stewart, Ohad Medalia, Rabah Ben Yaou, Gisèle Bonne,

LMNA encodes for Lamin A/C, type V intermediate filaments that polymerize under the inner nuclear membrane to form the nuclear lamina. A small fraction of Lamin A/C, less polymerized, is also found in the nucleoplasm. Lamin A/C functions include roles in nuclear resistance to mechanical stress and gene regulation. LMNA ... Read more >>

Cells (Cells)
[2020, 9(4):]

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Dysfunctional polycomb transcriptional repression contributes to lamin A/C-dependent muscular dystrophy.

Andrea Bianchi, Chiara Mozzetta, Gloria Pegoli, Federica Lucini, Sara Valsoni, Valentina Rosti, Cristiano Petrini, Alice Cortesi, Francesco Gregoretti, Laura Antonelli, Gennaro Oliva, Marco De Bardi, Roberto Rizzi, Beatrice Bodega, Diego Pasini, Francesco Ferrari, Claudia Bearzi, Chiara Lanzuolo,

Lamin A is a component of the inner nuclear membrane that, together with epigenetic factors, organizes the genome in higher order structures required for transcriptional control. Mutations in the lamin A/C gene cause several diseases belonging to the class of laminopathies, including muscular dystrophies. Nevertheless, molecular mechanisms involved in the ... Read more >>

J. Clin. Invest. (The Journal of clinical investigation)
[2020, :]

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A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy.

Sook Joung Lee, Sangjee Lee, Eunseok Choi, Soyoung Shin, Joonhong Park,

INTRODUCTION:Emery-Dreifuss muscular dystrophy (EDMD) also known as humeroperoneal muscular dystrophy, is a skeletal myopathy characterized by the clinical triad of progressive muscular weakness, joint contractures, and cardiac disease. METHODOLOGY:Herein, we reported a family including two patients (the proband and his son) affected with progressive muscular dystrophy manifested by joint contractures ... Read more >>

Clin. Chim. Acta (Clinica chimica acta; international journal of clinical chemistry)
[2020, 506:50-54]

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Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy.

Yasuyuki Chiba, Arata Fukushima, Motoki Nakao, Yuta Kobayashi, Takahiro Ishigaki, Taro Tenma, Kiwamu Kamiya, Yasushige Shingu, Tomonori Ooka, Yoshiro Matsui, Toshihisa Anzai,

A 23-year-old man had progressive muscle weakness and Emery-Dreifuss muscular dystrophy (EDMD) due to a LMNA (lamin A/C) mutation. Congestive heart failure diagnosed at 19 years of age. Maximal drug treatment/cardiac resynchronization failed to improve the cardiac function. He was therefore hospitalized due to heart failure. Despite extracorporeal membrane oxygenation, ... Read more >>

Intern. Med. (Internal medicine (Tokyo, Japan))
[2020, :]

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Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.

Kseniya Perepelina, Polina Klauzen, Aleksandr Khudiakov, Anna Zlotina, Yulia Fomicheva, Dmitry Rudenko, Mikhail Gordeev, Alexey Sergushichev, Anna Malashicheva, Anna Kostareva,

Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p. p.Arg527Pro mutation associated with Emery-Dreifuss muscular dystrophy and dilated cardiomyopathy. Patient-specific peripheral blood mononuclear cells were reprogrammed ... Read more >>

Stem Cell Res (Stem cell research)
[2020, 43:101714]

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Relationship between infrared skin radiation and muscular strength tests in patients affected by Emery-Dreifuss muscular dystrophy.

A Cabizosu, N Carboni, A Martínez-Almagro Andreo, G Casu, Claudio Ramón Sánchez, J M Vegara-Meseguer,

Considering that infrared thermography is presented as a diagnostic technique for non-invasive, non-ionizing, fast and easy to use imaging and Emery-Dreifuss muscular dystrophy is a clinical condition that seems to be related to changes in the emission of infrared radiation at the skin level due to its neurodegenerative character, we ... Read more >>

Med. Hypotheses (Medical hypotheses)
[2020, 138:109592]

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Loss of an H3K9me anchor rescues laminopathy-linked changes in nuclear organization and muscle function in an Emery-Dreifuss muscular dystrophy model.

Jennifer C Harr, Christoph D Schmid, Celia Muñoz-Jiménez, Raquel Romero-Bueno, Véronique Kalck, Adriana Gonzalez-Sandoval, Michael H Hauer, Jan Padeken, Peter Askjaer, Anna Mattout, Susan M Gasser,

Mutations in the nuclear structural protein lamin A produce rare, tissue-specific diseases called laminopathies. The introduction of a human Emery-Dreifuss muscular dystrophy (EDMD)-inducing mutation into the C. elegans lamin (LMN-Y59C), recapitulates many muscular dystrophy phenotypes, and correlates with hyper-sequestration of a heterochromatic array at the nuclear periphery in muscle cells. ... Read more >>

Genes Dev. (Genes & development)
[2020, 34(7-8):560-579]

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Novel candidate alleles associated with gene regulation for Emery-Dreifuss muscular dystrophy.

Hui Xiong,

EBioMedicine (EBioMedicine)
[2020, 52:102620]

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Restoration of Global Sagittal Alignment After Surgical Correction of Cervical Hyperlordosis in a Patient with Emery-Dreifuss Muscular Dystrophy: A Case Report.

Bassel G Diebo, Neil V Shah, James C Messina, Qais Naziri, Nicholas H Post, K Daniel Riew, Carl B Paulino,

CASE:We report a rare cervical hyperlordotic deformity in a 19-year-old woman with Emery-Dreifuss muscular dystrophy and concomitant scoliosis. After standard posterolateral instrumentation and fusion of C2-T1 and extensive soft-tissue release, her neck pain improved and unassisted maintenance of cervical alignment and horizontal gaze were preserved through an 8-year follow-up. More ... Read more >>

JBJS Case Connect (JBJS case connector)
[2020, 10(1):e0003]

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The Joint Analysis of Multi-Omics Data Revealed the Methylation-Expression Regulations in Atrial Fibrillation.

Ban Liu, Xin Shi, Keke Ding, Mengwei Lv, Yongjun Qian, Shijie Zhu, Changfa Guo, Yangyang Zhang,

Atrial fibrillation (AF) is one of the most prevalent heart rhythm disorder. The causes of AF include age, male sex, diabetes, hypertension, valve disease, and systolic/diastolic dysfunction. But on molecular level, its mechanisms are largely unknown. In this study, we collected 10 patients with persistent atrial fibrillation, 10 patients with ... Read more >>

Front Bioeng Biotechnol (Frontiers in bioengineering and biotechnology)
[2020, 8:187]

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Emery-Dreifuss muscular dystrophy.

Scott A Heller, Renata Shih, Raghav Kalra, Peter B Kang,

Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose due to frequent life-threatening cardiac complications. EDMD classically presents with muscle weakness, early contractures, cardiac conduction abnormalities and cardiomyopathy, although the presence and severity of these manifestations vary by subtype and individual. Associated genes include ... Read more >>

Muscle Nerve (Muscle & nerve)
[2020, 61(4):436-448]

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Dilated cardiomyopathy with severe arrhythmias in Emery-Dreifuss muscular dystrophy.

Andrzej Kułach, Michał Majewski, Zbigniew Gąsior, Rafał Gardas, Kinga Gościńska-Bis, Krzysztof S Gołba,

Cardiol J (Cardiology journal)
[2020, 27(1):93-94]

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Epigenetic chaperoning of aging.

Stefanie Müthel, Baris Tursun,

Aging (Albany NY) (Aging)
[2020, 12(2):1044-1046]

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A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.

Nivedita Patni, Sarah Hatab, Chao Xing, Zhengyang Zhou, Claudia Quittner, Abhimanyu Garg,

BACKGROUND:Despite major advances in understanding the molecular basis of various genetic lipodystrophy syndromes, some rare patients still remain unexplained. CASES:We report a novel autosomal recessive lipodystrophy affecting two sisters aged 17 and 19 years and characterised by early onset intellectual disability, and subsequent development of near-generalised loss of subcutaneous fat ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2019, :]

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Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells.

Ashley J Earle, Tyler J Kirby, Gregory R Fedorchak, Philipp Isermann, Jineet Patel, Sushruta Iruvanti, Steven A Moore, Gisèle Bonne, Lori L Wallrath, Jan Lammerding,

Mutations in the LMNA gene, which encodes the nuclear envelope (NE) proteins lamins A/C, cause Emery-Dreifuss muscular dystrophy, congenital muscular dystrophy and other diseases collectively known as laminopathies. The mechanisms responsible for these diseases remain incompletely understood. Using three mouse models of muscle laminopathies and muscle biopsies from individuals with ... Read more >>

Nat Mater (Nature materials)
[2020, 19(4):464-473]

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A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.

Peter Meinke, Alastair R W Kerr, Rafal Czapiewski, Jose I de Las Heras, Charles R Dixon, Elizabeth Harris, Heike Kölbel, Francesco Muntoni, Ulrike Schara, Volker Straub, Benedikt Schoser, Manfred Wehnert, Eric C Schirmer,

BACKGROUND:As genome-wide approaches prove difficult with genetically heterogeneous orphan diseases, we developed a new approach to identify candidate genes. We applied this to Emery-Dreifuss muscular dystrophy (EDMD), characterised by early onset contractures, slowly progressive muscular wasting, and life-threatening heart conduction disturbances with wide intra- and inter-familial clinical variability. Roughly half ... Read more >>

EBioMedicine (EBioMedicine)
[2020, 51:102587]

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Identification of hub genes, key pathways, and therapeutic agents in Hutchinson-Gilford Progeria syndrome using bioinformatics analysis.

Dengchuan Wang, Shengshuo Liu, Shi Xu,

BACKGROUND:Hutchinson-Gilford Progeria syndrome (HGPS) is a rare lethal premature and accelerated aging disease caused by mutations in the lamin A/C gene. Nevertheless, the mechanisms of cellular damage, senescence, and accelerated aging in HGPS are not fully understood. Therefore, we aimed to screen potential key genes, pathways, and therapeutic agents of ... Read more >>

Medicine (Baltimore) (Medicine)
[2020, 99(7):e19022]

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FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.

Ting Chen, Xianghui Lu, Qiang Shi, Junhong Guo, Huifang Wang, Qian Wang, Xi Yin, Yutong Zhang, Chuanqiang Pu, Dong Zhou,

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 hypertrophic cardiomyopathy, are clinically and pathologically heterogeneous disorders caused by FHL1 gene mutations. According to previous reports, the first three types are myopathies with reducing ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2020, 30(2):165-172]

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Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.

Iván Landires, Virginia Núñez-Samudio, Julián Fernandez, Cesar Sarria, Víctor Villareal, Fernando Córdoba, Giovanni Apráez-Ippolito, Samuel Martínez, Oscar M Vidal, Jorge I Vélez, Mauricio Arcos-Holzinger, Sergio Landires, Mauricio Arcos-Burgos,

Presented here are five members of a family that was ascertained from an isolated, consanguineous, indigenous Amerindian community in Colombia that was affected with calpain 3-related, limb-girdle muscular dystrophy type R1. These patients are homozygous for a unique and novel deletion of four bases (TGCC) in exon 3 of the ... Read more >>

Genes (Basel) (Genes)
[2020, 11(2):]

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Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.

Inmaculada Pagola-Lorz, Esther Vicente, Berta Ibáñez, Laura Torné, Itsaso Elizalde-Beiras, Virginia Garcia-Solaesa, Fermín García, Josu Delfrade, Ivonne Jericó,

BACKGROUND:Inherited muscle diseases are a group of rare heterogeneous muscle conditions with great impact on quality of life, for which variable prevalence has previously been reported, probably due to case selection bias. The aim of this study is to estimate the overall and selective prevalence rates of inherited muscle diseases ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):276]

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X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.

Emanuela Viggiano, Agnieszka Madej-Pilarczyk, Nicola Carboni, Esther Picillo, Manuela Ergoli, Stefania Del Gaudio, Michal Marchel, Gerardo Nigro, Alberto Palladino, Luisa Politano,

X-linked Emery-Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study was to evaluate the relation between heart ... Read more >>

Genes (Basel) (Genes)
[2019, 10(11):]

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A Novel Mutation Of The EMD Gene In A Family With Cardiac Conduction Abnormalities And A High Incidence Of Sudden Cardiac Death.

Demiao Kong, Yi Zhan, Canzhao Liu, Yerong Hu, Yangzhao Zhou, Jiawen Luo, Lu Gu, Xinmin Zhou, Zhiwei Zhang,

Background:Emery-Dreifuss muscular dystrophy, caused by mutations in genes such as emerin (EMD) or lamin A/C (LMNA), is a disorder affecting the joints, muscles, and heart, with a wide spectrum of patient phenotypes including muscle wasting and cardiac conduction defects. Methods and results:Here we report a multi-generation family from the Hunan Province ... Read more >>

Pharmgenomics Pers Med (Pharmacogenomics and personalized medicine)
[2019, 12:319-327]

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Drosophila emerins control LINC complex localization and transcription to regulate myonuclear position.

Torrey R Mandigo, Blake D Turcich, Alyssa J Anderson, Michael R Hussey, Eric S Folker,

Mispositioned nuclei are a hallmark of skeletal muscle disease. Many of the genes that are linked to Emery-Dreifuss muscular dystrophy (EDMD) encode proteins that are critical for nuclear movement in various cells, suggesting that disruptions in nuclear movement and position may contribute to disease progression. However, how these genes are ... Read more >>

J. Cell. Sci. (Journal of cell science)
[2019, 132(20):]

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Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset.

Raffaello Ditaranto, Giuseppe Boriani, Mauro Biffi, Massimiliano Lorenzini, Maddalena Graziosi, Matteo Ziacchi, Ferdinando Pasquale, Giovanni Vitale, Alessandra Berardini, Rita Rinaldi, Giovanna Lattanzi, Luciano Potena, Sofia Martin Suarez, Maria Letizia Bacchi Reggiani, Claudio Rapezzi, Elena Biagini,

OBJECTIVE:To investigate differences in cardiac manifestations of patients affected by laminopathy, according to the presence or absence of neuromuscular involvement at presentation. METHODS:We prospectively analyzed 40 consecutive patients with a diagnosis of laminopathy followed at a single centre between 1998 and 2017. Additionally, reports of clinical evaluations and tests prior ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):263]

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Mechanistic target of rapamycin signaling in mouse models of accelerated aging.

Jin Young Lee, Brian K Kennedy, Chen-Yu Liao,

The mechanistic target of rapamycin (mTOR) is an essential nutrient-sensing kinase that integrates and regulates a number of fundamental cellular processes required for cell growth, cell motility, translation, metabolism, and autophagy. mTOR signaling has been implicated in the progression of many human diseases, and its dysregulation has been reported in ... Read more >>

J. Gerontol. A Biol. Sci. Med. Sci. (The journals of gerontology. Series A, Biological sciences and medical sciences)
[2020, 75(1):64-72]

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