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Cardiac laminopathy

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https://www.readbyqxmd.com/read/27717888/new-intronic-splicing-mutation-in-the-lmna-gene-causing-progressive-cardiac-conduction-defects-and-variable-myopathy
#1
Y Rogozhina, S Mironovich, A Shestak, T Adyan, A Polyakov, D Podolyak, A Bakulina, S Dzemeshkevich, E Zaklyazminskaya
BACKGROUND: Most of mutations in the LMNA gene are unique and have been found in only a few unrelated families. The clinical interpretation of new genetic variants, especially beyond the coding area and canonical splice sites, is proving to be difficult and requires advanced investigation. METHODS: This study included patients with progressive cardiac conduction defects with neuromuscular involvement. The clinical evaluation included medical history and 24-h Holter monitoring...
October 4, 2016: Gene
https://www.readbyqxmd.com/read/27649756/recent-advances-in-animal-and-human-pluripotent-stem-cell-modeling-of-cardiac-laminopathy
#2
REVIEW
Yee-Ki Lee, Yu Jiang, Xin-Ru Ran, Yee-Man Lau, Kwong-Man Ng, Wing-Hon Kevin Lai, Chung-Wah Siu, Hung-Fat Tse
Laminopathy is a disease closely related to deficiency of the nuclear matrix protein lamin A/C or failure in prelamin A processing, and leads to accumulation of the misfold protein causing progeria. The resultant disrupted lamin function is highly associated with abnormal nuclear architecture, cell senescence, apoptosis, and unstable genome integrity. To date, the effects of loss in nuclear integrity on the susceptible organ, striated muscle, have been commonly associated with muscular dystrophy, dilated cardiac myopathy (DCM), and conduction defeats, but have not been studied intensively...
September 20, 2016: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/27529282/skeletal-muscle-laminopathies-a-review-of-clinical-and-molecular-features
#3
REVIEW
Lorenzo Maggi, Nicola Carboni, Pia Bernasconi
LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing. Laminopathies are associated with a wide range of disease phenotypes, including neuromuscular, cardiac, metabolic disorders and premature aging syndromes. The most frequent diseases associated with mutations in the LMNA gene are characterized by skeletal and cardiac muscle involvement. This review will focus on genetics and clinical features of laminopathies affecting primarily skeletal muscle...
August 11, 2016: Cells
https://www.readbyqxmd.com/read/27220833/an-elderly-onset-limb-girdle-muscular-dystrophy-type-1b-lgmd1b-with-pseudo-hypertrophy-of-paraspinal-muscles
#4
Mitsuru Furuta, Hisae Sumi-Akamaru, Masanori P Takahashi, Yukiko K Hayashi, Ichizo Nishino, Hideki Mochizuki
Mutations in LMNA, encoding A-type lamins, lead to diverse disorders, collectively called "laminopathies," which affect the striated muscle, cardiac muscle, adipose tissue, skin, peripheral nerve, and premature aging. We describe a patient with limb-girdle muscular dystrophy type 1B (LGMD1B) carrying a heterozygous p.Arg377His mutation in LMNA, in whom skeletal muscle symptom onset was at the age of 65 years. Her weakness started at the erector spinae muscles, which showed marked pseudo-hypertrophy even at the age of 72 years...
September 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27179216/emery-dreifuss-muscular-dystrophy-the-most-recognizable-laminopathy
#5
A Madej-Pilarczyk, A Kochański
Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD cases described so far are of the emerinopathy (EDMD1) kind, with a recessive X-linked mode of inheritance, or else laminopathy (EDMD2), with an autosomal dominant mode of inheritance...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27014341/heart-disease-in-disorders-of-muscle-neuromuscular-transmission-and-the-nerves
#6
REVIEW
Josef Finsterer, Claudia Stöllberger
Little is known regarding cardiac involvement (CI) by neuromuscular disorders (NMDs). The purpose of this review is to summarise and discuss the major findings concerning the types, frequency, and severity of cardiac disorders in NMDs as well as their diagnosis, treatment, and overall outcome. CI in NMDs is characterized by pathologic involvement of the myocardium or cardiac conduction system. Less commonly, additional critical anatomic structures, such as the valves, coronary arteries, endocardium, pericardium, and even the aortic root may be involved...
March 2016: Korean Circulation Journal
https://www.readbyqxmd.com/read/26733286/distal-acroosteolysis-poikiloderma-and-joint-stiffness-a-novel-laminopathy
#7
Wafaa Sewairi, Abdulrahman Assiri, Nisha Patel, Amal Alhashem, Fowzan S Alkuraya
LMNA encodes lamin A and lamin C, two major components of the nuclear lamina, and its pathogenic variants lead to a dozen distinct clinical entities collectively known as laminopathies. Most LMNA-related laminopathies are autosomal dominant but four are autosomal recessive; furthermore, some of the dominant variants have been associated with distinct phenotypes when inherited recessively, further complicating the ability to correlate genotype with phenotype. We report a consanguineous family in which the index presented with an apparently unique constellation of poikiloderma, joint motion restriction and distal acroosteolysis but lacks features of muscle weakness, lipodystrophy, or cardiac or craniofacial involvement...
August 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26551884/sudden-cardiac-death-in-neuromuscular-disorders
#8
REVIEW
Josef Finsterer, Claudia Stöllberger, Concha Maeztu
OBJECTIVES: The heart is frequently affected in neuromuscular disorders (NMDs). Some of these patients even experience sudden cardiac death (SCD). In the following review, we summarize recent findings concerning epidemiology, risk stratification, and prevention of SCD in NMDs. METHODS: Review of publications about SCD and NMDs by search of MEDLINE applying appropriate search terms. RESULTS: NMDs in which SCD was most frequently reported include myotonic dystrophy type 1, mitochondrial disorders, laminopathy, desminopathy, Danon disease, and amyotrophic lateral sclerosis...
January 15, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/25908635/cytoskeletal-prestress-regulates-nuclear-shape-and-stiffness-in-cardiac-myocytes
#9
Hyungsuk Lee, William J Adams, Patrick W Alford, Megan L McCain, Adam W Feinberg, Sean P Sheehy, Josue A Goss, Kevin Kit Parker
Mechanical stresses on the myocyte nucleus have been associated with several diseases and potentially transduce mechanical stimuli into cellular responses. Although a number of physical links between the nuclear envelope and cytoplasmic filaments have been identified, previous studies have focused on the mechanical properties of individual components of the nucleus, such as the nuclear envelope and lamin network. The mechanical interaction between the cytoskeleton and chromatin on nuclear deformability remains elusive...
November 2015: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/25886484/a-novel-lamin-a-c-gene-mutation-causing-spinal-muscular-atrophy-phenotype-with-cardiac-involvement-report-of-one-case
#10
Naotoshi Iwahara, Shin Hisahara, Takashi Hayashi, Jun Kawamata, Shun Shimohama
BACKGROUND: Mutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies. Only one report of spinal muscular atrophy and cardiomyopathy phenotype with lamin A/C gene mutations has been published. The concept that lamin A/C gene mutations cause spinal muscular atrophy has not been established. CASE PRESENTATION: We report a man aged 65 years who presented with amyotrophy of lower limbs, arrhythmia and cardiac hypofunction...
2015: BMC Neurology
https://www.readbyqxmd.com/read/25837155/clinical-and-functional-characterization-of-a-novel-mutation-in-lamin-a-c-gene-in-a-multigenerational-family-with-arrhythmogenic-cardiac-laminopathy
#11
Cinzia Forleo, Monica Carmosino, Nicoletta Resta, Alessandra Rampazzo, Rosanna Valecce, Sandro Sorrentino, Massimo Iacoviello, Francesco Pisani, Giuseppe Procino, Andrea Gerbino, Arnaldo Scardapane, Cristiano Simone, Martina Calore, Silvia Torretta, Maria Svelto, Stefano Favale
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recently, were related to severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC). Both genetic and phenotypic overlap between DCM and ARVC was observed; molecular pathomechanisms leading to the cardiac phenotypes caused by LMNA mutations are not yet fully elucidated. This study involved a large Italian family, spanning 4 generations, with arrhythmogenic cardiomyopathy of different phenotypes, including ARVC, DCM, system conduction defects, ventricular arrhythmias, and sudden cardiac death...
2015: PloS One
https://www.readbyqxmd.com/read/25819867/metabolic-and-cardiac-phenotype-characterization-in-37-atypical-dunnigan-patients-with-nonfarnesylated-mutated-prelamin-a
#12
Philippe Andre, Stéphane Schneebeli, Corinne Vigouroux, Olivier Lascols, Mathieu Schaaf, Philippe Chevalier
BACKGROUND: Laminopathies are associated with a broad spectrum of clinical manifestations, from lipodystrophy to cardiac diseases. The purpose of this study was to assess genotype-phenotype correlations in a lipodystrophic laminopathy caused by the Lamin A (LMNA) mutation T655fsX49. This mutation leads to synthesis of nonfarnesylated-mutated prelamin A that does not undergo the physiologic lamin A maturation process. METHODS AND RESULTS: We studied 35 patients originating from Reunion Island who carried the LMNA T655fsX49 mutation...
April 2015: American Heart Journal
https://www.readbyqxmd.com/read/25783535/a-novel-lamin-a-c-gene-mutation-causing-spinal-muscular-atrophy-phenotype-with-cardiac-involvement-report-of-one-case
#13
Naotoshi Iwahara, Shin Hisahara, Takashi Hayashi, Jun Kawamata, Shun Shimohama
BACKGROUND: Mutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies. Only one report of spinal muscular atrophy and cardiomyopathy phenotype with lamin A/C gene mutations has been published. The concept that lamin A/C gene mutations cause spinal muscular atrophy has not been established. CASE PRESENTATION: We report a man aged 65 years who presented with amyotrophy of lower limbs, arrhythmia and cardiac hypofunction...
December 2015: BMC Neurology
https://www.readbyqxmd.com/read/25656816/laminopathies-a-pandora-s-box-of-heart-failure-bradyarrhythmias-and-sudden-death
#14
Nuno Cabanelas, Vítor Paulo Martins
INTRODUCTION: The LMNA gene encodes a group of proteins that have an important structural and functional role in the cell nucleus. Mutations in this gene have been found in 6% of all forms of dilated cardiomyopathy and in up to 33% of those with conduction system disturbances. AIMS AND METHODS: Using a case report as an example, we performed a review of the literature on the pathophysiological mechanisms, clinical manifestations, risk stratification and treatment options of cardiac involvement in laminopathies...
February 2015: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/25256213/muscle-fiber-type-disproportion-ftd-in-a-family-with-mutations-in-the-lmna-gene
#15
Lucia Ruggiero, Chiara Fiorillo, Alessandra Tessa, Fiore Manganelli, Rosa Iodice, Raffaele Dubbioso, Floriana Vitale, Eugenia Storti, Ernesto Soscia, Filippo Santorelli, Lucio Santoro
INTRODUCTION: Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), dilated cardiomyopathy with conduction defect, and different forms of lipodystrophy and progeria. METHODS: We provide clinical, histopathological, muscle imaging, and cardiac features of a family with heterozygous mutation in the LMNA gene...
April 2015: Muscle & Nerve
https://www.readbyqxmd.com/read/24990833/-case-with-emery-dreifuss-muscular-dystrophy-diagnosed-forty-two-years-after-onset-and-implanted-with-a-cardiac-resynchronization-therapy-defibrillator
#16
Yoshio Sakiyama, Eri Watanabe, Mieko Otsuka, Taishi Hirahara, Shinichi Momomura, Yukiko Hayashi
The patient was a 53-year-old male. He showed steppage gait at the age of 11 and equinus foot at 13. He walked unaided with shoe-insoles to support his heels. Atrial fibrillation and cardiac hypertrophy were found in his 30s, and ventricular tachycardia (VT) was observed at the age of 48. Electrophysiological studies were performed, but VT was not sustained, symptomatic, or showed signs of infra-Hisian block, and a pacemaker was not indicated. At 53, he was introduced to a neurologist because of tetraplegia after the first episode of syncope...
2014: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/24907107/-arrhythmia-and-muscular-exercise-intolerance-revealing-lamin-genetic-defect-in-a-young-adult
#17
C Jacquet, B Brembilla-Perrot, J-M Marc Sellal, S Mohamed, A Terrier de la Chaise, P Kaminsky
INTRODUCTION: Arrhythmic disorders are infrequent in young adult and should evoke myopathy associated cardiomyopathy, even though muscular symptoms are moderate or absent. CASE REPORT: We report a 25-year-old woman who developed severe supraventricular rhythm disturbances with exercise intolerance and elevated serum creatine kinase level. Initially the echocardiography showed normal ventricular function. Mutation in the lamin gene (LMNA) was identified. During the disease course, arrhythmia and ventricular function worsened and required cardioverter defibrillator implantation...
September 2014: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/24860693/novel-insights-into-the-disease-etiology-of-laminopathies
#18
Chin Yee Ho, Diana E Jaalouk, Jan Lammerding
Laminopathies are a heterogeneous group of diseases that are caused by mutations in the nuclear envelope proteins lamins A and C. Laminopathies include dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, and familial partial lipodystrophy. Despite their near-ubiquitous expression, most laminopathies involve highly tissue-specific phenotypes, often affecting skeletal and cardiac muscle. The underlying mechanism(s) remain incompletely understood. We recently reported that altered actin dynamics in lamin A/C-deficient and mutant cells disturb nuclear shuttling of the transcriptional co-activator MKL1, which is critical for cardiac function...
January 1, 2013: Rare Diseases
https://www.readbyqxmd.com/read/24440603/striated-muscle-laminopathies
#19
REVIEW
Feriel Azibani, Antoine Muchir, Nicolas Vignier, Gisèle Bonne, Anne T Bertrand
Lamins A and C, encoded by LMNA, are constituent of the nuclear lamina, a meshwork of proteins underneath the nuclear envelope first described as scaffolding proteins of the nucleus. Since the discovery of LMNA mutations in highly heterogeneous human disorders (including cardiac and muscular dystrophies, lipodystrophies and progeria), the number of functions described for lamin A/C has expanded. Lamin A/C is notably involved in the regulation of chromatin structure and gene transcription, and in the resistance of cells to mechanical stress...
May 2014: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/24375749/mapping-disease-related-missense-mutations-in-the-immunoglobulin-like-fold-domain-of-lamin-a-c-reveals-novel-genotype-phenotype-associations-for-laminopathies
#20
Juergen Scharner, Hui-Chun Lu, Franca Fraternali, Juliet A Ellis, Peter S Zammit
Mutations in A-type nuclear lamins cause laminopathies. However, genotype-phenotype correlations using the 340 missense mutations within the LMNA gene are unclear: partially due to the limited availability of three-dimensional structure. The immunoglobulin (Ig)-like fold domain has been solved, and using bioinformatics tools (including Polyphen-2, Fold X, Parameter OPtimized Surfaces, and PocketPicker) we characterized 56 missense mutations for position, surface exposure, change in charge and effect on Ig-like fold stability...
June 2014: Proteins
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