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Clin Chim Acta 2019 Apr 5;495:123-128. Epub 2019 Apr 5.

Department of Cardiovascular Medicine, Fukushima Medical University, Fukushima, Japan.

Titin, encoded by the gene TTN, is the largest human protein, and plays central roles in sarcomeric structures and functions in skeletal and cardiac muscles. Mutations of TTN are causally related to specific types of muscular dystrophies and cardiomyopathies. A developed methodology of next generation sequencing has recently led to the identification of novel TTN mutations in such diseases. Read More

Clin Neurol Neurosurg 2019 May 19;180:48-51. Epub 2019 Mar 19.

Neurology, Pusan National University Yangsan Hospital, Yangsan, South Korea. Electronic address:

FHL1-related myopathies are clinically heterogeneous, involving skeletal and cardiac muscles. Overlapping clinical features include joint contractures, rigid spine, scapuloperoneal weakness and cardiac diseases. Histopathologically, reducing bodies are the most characteristic finding, but not present in all FHL1-related cases. Read More

Biochem Biophys Res Commun 2019 Apr 7;512(1):22-28. Epub 2019 Mar 7.

Molecular Profiling Research Center for Drug Discovery and OPERANDO Open Innovation Laboratory, National Institute of Advanced Industrial Science and Technology (AIST), Tokyo, 135-0064, Japan; Graduate School of Medical Life Science, Yokohama City University, Kanagawa, 230-0045, Japan. Electronic address:

The C-terminal Ig-domain of lamin A plays critical roles in cell function via interaction with proteins, DNA, and chromatin. Mutations in this domain are known to cause various diseases including Emery-Dreifuss muscular dystrophy (EDMD) and familial partial lipodystrophy (FPLD). Here we examined the biophysical and biochemical properties of mutant Ig-domains identified in patients with EDMD and FPLD. Read More

Int J Mol Sci 2019 Feb 15;20(4). Epub 2019 Feb 15.

CNR National Research Council of Italy, Institute of Molecular Genetics, Unit of Bologna, 40136 Bologna, Italy.

The mechanistic target of rapamycin (mTOR) is a ubiquitous serine/threonine kinase that regulates anabolic and catabolic processes, in response to environmental inputs. The existence of mTOR in numerous cell compartments explains its specific ability to sense stress, execute growth signals, and regulate autophagy. mTOR signaling deregulation is closely related to aging and age-related disorders, among which progeroid laminopathies represent genetically characterized clinical entities with well-defined phenotypes. Read More

BMC Med Genomics 2019 Feb 14;12(1):33. Epub 2019 Feb 14.

Department of Biochemistry and Molecular Genetics, American University of Beirut Faculty of Medicine and Medical Center (AUBMC), Phase I, 8th floor, Room C-823, PO Box 11-0236, Riad El-Solh, Beirut, 1107 2020, Lebanon.

Background: Cardiomyopathies affect more than 0.5% of the general population. They are associated with high risk of sudden cardiac death, which can result from either heart failure or electrical abnormalities. Read More

Yi Chuan 2019 Jan;41(1):66-75

Department of Cell Biology and Genetics, Basic Medical College, Guangxi Medical University, Nanning 530021, China.

The LMNA gene encodes the nuclear Lamin A and Lamin C proteins, and is related to nuclear membrane organization, genome stability and cell differentiation. Abnormal expression of LMNA is ubiquitous in human tumors, and its mutation leads to various forms of laminopathies, including Emery-Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy (DCM), and Hutchinson-Gliford progeria syndrome (HGPS). To further determine the functions of the LMNA gene in cellular physiology, the present study used the CRISPR/Cas9 technique to edit the LMNA gene of 293T and HepG2 cells in vitro, which resulted in two stable LMNA gene knockout (LMNA KO) cell lines. Read More

Eur J Paediatr Neurol 2019 Mar 29;23(2):254-261. Epub 2018 Dec 29.

Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany.

Aims: To define the neurological and neuropathological alterations caused by SYNE1 mutations.

Methods: We describe 5 patients (3 males, 2 females; age 3-24 years) from 3 families. The diagnostic work-up included three muscle biopsies and two nerve biopsies in three of the cases. Read More

Front Cell Dev Biol 2018 20;6:172. Epub 2018 Dec 20.

Institute of Genetic and Biomedical Research, National Research Council of Italy, UOS of Milan, Milan, Italy.

Laminopathies are a group of rare degenerative disorders that manifest with a wide spectrum of clinical phenotypes, including both systemic multi-organ disorders, such as the Hutchinson-Gilford Progeria Syndrome (HGPS), and tissue-restricted diseases, such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and lipodystrophies, often overlapping. Despite their clinical heterogeneity, which remains an open question, laminopathies are commonly caused by mutations in the LMNA gene, encoding the nuclear proteins Lamin A and C. These two proteins are main components of the nuclear lamina and are involved in several biological processes. Read More

Parkinsonism Relat Disord 2018 Dec 11. Epub 2018 Dec 11.

Department of Neurology, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.

Introduction: SYNE1 encodes nesprin-1, a scaffold protein which is involved in the binding between cytoskeleton, nuclear envelope and other subcellular compartments. In 2007, recessive truncating SYNE1 mutations have been linked to a genetic form of pure cerebellar ataxia with adult onset and mild phenotype. Subsequent reports described a number of patients with SYNE1-ataxia and widespread neurological involvement including features of motor neuron disease. Read More

Int Heart J 2019 Jan 5;60(1):12-18. Epub 2018 Dec 5.

Department of Cardiovascular Medicine, Second Xiangya Hospital of Central South University.

Emery-Dreifuss muscular dystrophy (EDMD) is a group of hereditary muscular dystrophy syndrome caused by deficiency of genes encoding nuclear envelope proteins. Patients having EDMD show the triad of muscle dystrophy, joint contracture, and cardiac disease. In almost all patients, cardiac involvement is prevalent and is the most severe aspect of EDMD. Read More

Brain Behav 2019 Jan 3;9(1):e01167. Epub 2018 Dec 3.

Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, China.

Introduction: Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary myopathy characterized as triad of muscular dystrophy, joint contractures, and conduction cardiomyopathy. In this study, we diagnosed a X-linked recessive EDMD patient with severe conduction cardiomyopathy while noteless muscular and joint disorders.

Methods: A Chinese cardiomyopathy family spanning four generations was enrolled in the study. Read More

CMAJ 2018 Dec;190(48):E1414-E1417

Department of Medicine (Faiella), Queen Elizabeth II Health Sciences Centre, Dalhousie University, Halifax, NS; Division of Cardiology (Bessoudo), New Brunswick Heart Centre, Saint John Regional Hospital, Saint John, NB.

J Am Coll Cardiol 2018 Nov;72(20):2485-2506

Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.

Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or disease-specific metabolic indicators. Read More

Front Physiol 2018 30;9:1533. Epub 2018 Oct 30.

Sorbonne Université, INSERM, Institut de Myologie, Center of Research in Myology, UMRS 974, Paris, France.

Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition characterized by early contractures, skeletal muscle weakness, and cardiomyopathy. During the last 20 years, various genetic approaches led to the identification of causal genes of EDMD and related disorders, all encoding nuclear envelope proteins. By their respective localization either at the inner nuclear membrane or the outer nuclear membrane, these proteins interact with each other and establish a connection between the nucleus and the cytoskeleton. Read More

Mol Biol Cell 2018 Oct 17:mbcE18050277. Epub 2018 Oct 17.

Department of Molecular Biology, University of Wyoming, Laramie, WY, 82071.

Emerin is an inner nuclear membrane protein often mutated in Emery-Dreifuss muscular dystrophy. Because emerin has diverse roles in nuclear mechanics, cytoskeletal organization, and gene expression, it has been difficult to elucidate emerin's contribution to nuclear structure and disease pathology. In this study, we investigated emerin's impact on nuclei assembled in Xenopus laevis egg extract, a simplified biochemical system that lacks potentially confounding cellular factors and activities. Read More

Cells 2018 Oct 15;7(10). Epub 2018 Oct 15.

CNR Institute of Molecular Genetics, Unit of Bologna, 40136 Bologna, Italy.

linked-Emery-Dreifuss muscular dystrophy (EDMD2) is a rare disease characterized by muscle weakness, muscle wasting, and cardiomyopathy with conduction defects. The mutated protein lamin A/C binds several nuclear envelope components including the Linker of Nucleoskeleton and Cytoskeleton (LINC) complex and the inner nuclear membrane protein Samp1 (Spindle Associated Membrane Protein 1). Considering that Samp1 is upregulated during muscle cell differentiation and it is involved in nuclear movement, we hypothesized that it could be part of the protein platform formed by LINC proteins and prelamin A at the myotube nuclear envelope and, as previously demonstrated for those proteins, could be affected in EDMD2. Read More

Muscle Nerve 2019 Feb 13;59(2):E5-E7. Epub 2018 Nov 13.

Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8551, Japan.

Tokai J Exp Clin Med 2018 Sep 20;43(3):103-105. Epub 2018 Sep 20.

Department of Neurology, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan.

We had a case of Emery-Dreifuss muscular dystrophy (EDMD) in an 18-year-old woman who underwent endovascular therapy for a cardioembolic stroke. At 5 years old, she showed a high creatine kinase level and atrial fibrillation on electrocardiography in our hospital. Finally, she was diagnosed as having EDMD by genetic screening that revealed mutations in the LMNA gene (c. Read More

Nucleus 2018 ;9(1):442-459

c CNR Institute of Molecular Genetics , Unit of Bologna , Bologna , Italy.

Lamin A/C gene mutations can be associated with cardiac diseases, usually referred to as 'cardiolaminopathies' characterized by arrhythmic disorders and/or left ventricular or biventricular dysfunction up to an overt picture of heart failure. The phenotypic cardiac manifestations of laminopathies are frequently mixed in complex clinical patterns and specifically may include bradyarrhythmias (sinus node disease or atrioventricular blocks), atrial arrhythmias (atrial fibrillation, atrial flutter, atrial standstill), ventricular tachyarrhythmias and heart failure of variable degrees of severity. Family history, physical examination, laboratory findings (specifically serum creatine phosphokinase values) and ECG findings are often important 'red flags' in diagnosing a 'cardiolaminopathy'. Read More

Orphanet J Rare Dis 2018 08 14;13(1):133. Epub 2018 Aug 14.

Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2 Road, Guangzhou, 510080, GD, China.

Background: Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle muscles. Although the condition has been well-characterized, clinical and genetic heterogeneity can be observed in patients with LGMD. Here, we aimed to describe the clinical manifestations and genetic variability among a cohort of patients with LGMD in South China. Read More

World J Radiol 2018 Jul;10(7):78-82

Department of Radiology, Azienda Ospedaliero Universitaria, Cagliari 09045, Italy.

Emery dreifuss muscular dystrophy (EDMD) is a rare genetic syndrome consisting of tendon retractions, progressive muscle atrophy and cardiac involvement. We report a case of an obese patient affected by the familial X-linked form in which a pericallosal lipoma was found during investigation for a suspected acute vasculopathy. To date, EDMD has never been associated with cerebral lipomas and the X-linked form was never considered to be involved in lipodystrophic syndromes or non-muscular conditions. Read More

Med Hypotheses 2018 Sep 28;118:103-106. Epub 2018 Jun 28.

Azienda Sanitaria Locale Nuoro, Hospital San Francesco, Italy.

Introduction: Emery-Dreifuss muscular dystrophy (EDMD) is a clinical condition characterized by neuro-skeletal and cardiac impairments. By means of thermography, an image acquisition technique that allows the recording of the heat emitted by objects or bodies, news insight can be obtained insights about the evaluation and follow-up of this disease. Actually, musculoskeletal disorders are a major cause of counseling and access to rehabilitation services and are some of the most important problems that affect the quality of life of many people. Read More

Nucleus 2018 ;9(1):410-430

a The Wellcome Centre for Cell Biology and Institute of Cell Biology , University of Edinburgh , Edinburgh , UK.

Laminopathies yield tissue-specific pathologies, yet arise from mutation of ubiquitously-expressed genes. A little investigated hypothesis to explain this is that the mutated proteins or their partners have tissue-specific splice variants. To test this, we analyzed RNA-Seq datasets, finding novel isoforms or isoform tissue-specificity for: Lap2, linked to cardiomyopathy; Nesprin 2, linked to Emery-Dreifuss muscular dystrophy and Lmo7, that regulates the Emery-Dreifuss muscular dystrophy linked emerin gene. Read More

Nucleus 2018 ;9(1):398-409

a Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit , Fondazione IRCCS Istituto Neurologico "Carlo Besta" , Milan , Italy.

Laminopathies are a heterogeneous group of diseases, caused by mutations in lamin A/C proteins. The most common laminopathy (LMNA-related myopathies, LMNA-RM) affects skeletal and cardiac muscles; muscle histopathology is variable, ranging from mild unspecific changes to dystrophic features, sometimes with inflammatory evidence. Whether the genetic defect might activate innate immune components, leading to chronic inflammation, myofiber necrosis and fibrosis, is still unknown. Read More

Chin Med J (Engl) 2018 Jun;131(12):1472-1479

Department of Neurology, Peking University First Hospital, Beijing 100034, China.

Background: LMNA-related muscular dystrophy can manifest in a wide variety of disorders, including Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), and LMNA-associated congenital muscular dystrophy (L-CMD). Muscle magnetic resonance imaging (MRI) has become a useful tool in the diagnostic workup of patients with muscle dystrophies. This study aimed to investigate whether there is a consistent pattern of MRI changes in patients with LMNA mutations in various muscle subtypes. Read More

Neurol Int 2018 Mar 4;10(1):7468. Epub 2018 Apr 4.

CHU Raymond Poincaré et Université Versailles Saint Quentin en Yvelines, Garches, France.

Laminopathies are genetic disorders due to gene mutation encoding for proteins of the nuclear envelope. Patients are at risk of conduction defect, arrhythmia, sudden death and heart failure. The authors summarize predictive factors for cardiac events reported in the literature in this group of disease. Read More

Arch Endocrinol Metab 2018 Jun 17;62(3):376-382. Epub 2018 May 17.

UETeM - Molecular Pathology Group. IDIS-CIMUS, University of Santiago de Compostela, Spain.

Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported. Read More

Biochem Soc Trans 2018 06 21;46(3):669-681. Epub 2018 May 21.

King's College London British Heart Foundation Centre of Research Excellence, Cardiovascular Division, London SE5 9NU, U.K.

Nesprins (nuclear envelope spectrin repeat proteins) are a family of multi-isomeric scaffolding proteins. Nesprins form the LInker of Nucleoskeleton-and-Cytoskeleton (LINC) complex with SUN (Sad1p/UNC84) domain-containing proteins at the nuclear envelope, in association with lamin A/C and emerin, linking the nucleoskeleton to the cytoskeleton. The LINC complex serves as both a physical linker between the nuclear lamina and the cytoskeleton and a mechanosensor. Read More

Acta Myol 2017 Dec 1;36(4):207-212. Epub 2017 Dec 1.

Institute of Genetics and Cytology, National Academy of Sciences of Belarus, Minsk, Belarus.

Three cases of delated cardiomyopathy (DCM) with conduction defects (OMIM 115200), limb girdle muscular dystrophy 1B (OMIM 159001) and autosomal dominant Emery-Dreifuss muscular dystrophy 2 (OMIM 181350), all associated with different LMNA mutations are presented. Three heterozygous missense mutations were identified in unrelated patients - p.W520R (c. Read More

Biochim Biophys Acta Mol Cell Res 2018 08 17;1865(8):1088-1104. Epub 2018 May 17.

CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India. Electronic address:

Lamins constitute the major architectural proteins of the nuclear lamina that help in maintaining nuclear organization. Mutations in lamins are associated with diverse degenerative diseases, collectively termed laminopathies. HECW2, a HECT-type E3 ubiquitin ligase, is transcriptionally upregulated in HeLa cells expressing Emery-Dreifuss muscular dystrophy-causing-lamin A mutants. Read More

Nucleus 2018 Jan;9(1):292-304

j Institute of Molecular Genetics (IGM)-CNR, Unit of Bologna , Bologna , Italy.

Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, joint contractures, cardiomyopathy with conduction system disorders. Circulating biomarkers for these pathologies have not been identified. Here, we analyzed the secretome of a cohort of patients affected by these muscular laminopathies in the attempt to identify a common signature. Read More

Nucleus 2018 Jan;9(1):268-274

a Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences , Warsaw , Poland.

Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine rigidity and cardiomyopathy with conduction defects, is associated with structural/functional defect of genes that encode the proteins of nuclear envelope, including lamin A and several lamin-interacting proteins. This paper presents clinical aspects of EDMD in context to causative genes, genotype-phenotype correlation and its emplacement within phenotypic spectrum of skeletal muscle diseases associated with envelopathies. Read More

Nucleus 2018 Jan;9(1):276-290

a CNR Institute of Cell Biology and Neurobiology, Istituto di Ricovero e Cura a Carattere Scientifico Fondazione Santa Lucia , Rome , Italy.

The alteration of the several roles that Lamin A/C plays in the mammalian cell leads to a broad spectrum of pathologies that - all together - are named laminopathies. Among those, the Emery Dreifuss Muscular Dystrophy (EDMD) is of particular interest as, despite the several known mutations of Lamin A/C, the genotype-phenotype correlation still remains poorly understood; this suggests that the epigenetic background of patients might play an important role during the time course of the disease. Historically, both a mechanical role of Lamin A/C and a regulative one have been suggested as the driving force of laminopathies; however, those two hypotheses are not mutually exclusive. Read More

Sci Rep 2018 Apr 4;8(1):5618. Epub 2018 Apr 4.

University of Lyon, University of Lyon1 Claude Bernard Lyon1, Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France.

LMNA gene encodes lamins A and C, two major components of the nuclear lamina, a network of intermediate filaments underlying the inner nuclear membrane. Most of LMNA mutations are associated with cardiac and/or skeletal muscles defects. Muscle laminopathies include Emery-Dreifuss Muscular Dystrophy, Limb-Girdle Muscular Dystrophy 1B, LMNA-related Congenital Muscular Dystrophy and Dilated Cardiomyopathy with conduction defects. Read More

Proc Natl Acad Sci U S A 2018 04 26;115(16):4206-4211. Epub 2018 Mar 26.

Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892;

encodes the A-type lamins that are part of the nuclear scaffold. Mutations in can cause a variety of disorders called laminopathies, including Hutchinson-Gilford progeria syndrome (HGPS), atypical Werner syndrome, and Emery-Dreifuss muscular dystrophy. Previous work has shown that treatment of HGPS cells with the mTOR inhibitor rapamycin or with the rapamycin analog everolimus corrects several of the phenotypes seen at the cellular level-at least in part by increasing autophagy and reducing the amount of progerin, the toxic form of lamin A that is overproduced in HGPS patients. Read More

Nucleus 2018 Jan;9(1):227-234

a Laboratory of Nuclear Proteins, Faculty of Biotechnology , University of Wroclaw , Fryderyka Joliot-Curie, Wroclaw , Poland.

Lamins are evolutionarily conserved nuclear intermediate filament proteins. They provide structural support for the nucleus and help regulate many other nuclear activities. Mutations in human lamin genes, and especially in the LMNA gene, cause numerous diseases, termed laminopathies, including muscle, cardiac, metabolic, neuronal and early aging diseases. Read More

Gastroenterology 2018 05 13;154(6):1602-1619.e1. Epub 2018 Mar 13.

Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, Michigan; Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan; Åbo Akademi University, Turku, Finland.

The nuclear lamina is a multi-protein lattice composed of A- and B-type lamins and their associated proteins. This protein lattice associates with heterochromatin and integral inner nuclear membrane proteins, providing links among the genome, nucleoskeleton, and cytoskeleton. In the 1990s, mutations in EMD and LMNA were linked to Emery-Dreifuss muscular dystrophy. Read More

Biochem Soc Trans 2018 04 27;46(2):311-320. Epub 2018 Feb 27.

King's College London British Heart Foundation Centre of Research Excellence, Cardiovascular Division, James Black Centre, 125 Coldharbour Lane, London SE5 9NU, U.K.

Nesprins (nuclear envelope spectrin repeat proteins) are multi-isomeric scaffolding proteins. Nesprin-1 and -2 are highly expressed in skeletal and cardiac muscles and together with SUN (Sad1p/UNC84) domain-containing proteins form the LInker of Nucleoskeleton and Cytoskeleton (LINC) complex at the nuclear envelope in association with lamin A/C and emerin. Mutations in nesprin-1/2 have been found in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) as well as dilated cardiomyopathy (DCM). Read More

Tidsskr Nor Laegeforen 2018 01 8;138(1). Epub 2018 Jan 8.

Trends Cardiovasc Med 2018 07 21;28(5):330-337. Epub 2017 Dec 21.

Chair of Cardiology, University of Campania "Luigi Vanvitelli", Monaldi Hospital, Naples, Italy.

Muscular dystrophy (MD) connotes a heterogeneous group of inherited disordersaffecting skeletal and cardiac muscle. Inseveral forms of MD, the cardiac disease may be the predominant manifestationof the underlying genetic myopathy. The cardiacinvolvement is due to progressive interstitial fibrosis and fatty replacement inboth the atria and ventricles, which may lead to cardiomyopathy, conductiondefects and tachyarrhythmias. Read More

J Atr Fibrillation 2017 Apr-May;9(6):1511. Epub 2017 Apr 30.

Department of Cardiology and Vascular Medicine Dr. Hasan Sadikin Hospital, Bandung, Indonesia. Jl. Pasteur No. 38 Bandung 40161, Indonesia.

We present a 26 year old female Indonesian patient with full spectrum Emery Dreifuss Muscular Dystrophy (EDMD) characterized with contracture of elbows, heel cord and pelvic muscle wasting and weakness and atrial paralysis, as rare cardiac findings in EDMD . A novel de novo pathogenic heterozygous missense mutation (NM_170707.3: c. Read More

J Atr Fibrillation 2016 Dec 31;9(4):1468. Epub 2016 Dec 31.

We present 38-years male patient. He has suffered from muscle weakness since 5 years. Arrhythmias appeared at the age of 32. Read More

Clin Neurophysiol 2018 01 16;129(1):271-279. Epub 2017 Nov 16.

Neuromuscular Unit, Mossakowski Medical Research Center, Polish Academy of Sciences, 02-106 Warsaw, Pawinskiego 5, Poland.

Objectives: The aim was to determine motor unit morphology underpinning the various MUP waveforms using MUP analysis.

Method: The simulation method is based on the decomposition of MUP into single fiber potentials. Number of fibers, fiber diameters and fiber to electrode distances were determined. Read More

Sci Rep 2017 Nov 30;7(1):16655. Epub 2017 Nov 30.

Department of Neurochemistry, Stockholm University, Svante Arrhenius väg 16B, SE-106 91, Stockholm, Sweden.

Muscles are developed and regenerated in a differentiation process called myogenesis, which involves components of the nuclear envelope. We have investigated Samp1 (Spindle Associated Membrane Protein 1), a transmembrane nuclear envelope protein, which interacts with emerin and lamin A, both of which are linked to Emery-Dreifuss muscular dystrophy (EDMD). We found that the levels of Samp1 increased seven-fold during differentiation of mouse C2C12 muscle progenitor cells. Read More

Int J Biochem Cell Biol 2018 01 20;94:22-30. Epub 2017 Nov 20.

Institute of Medical Sciences, Tzu-Chi University, Hualien 97004, Taiwan; Institute of Biomedical Sciences, Mackay Medical College, New Taipei City 25245, Taiwan. Electronic address:

LMO7 (LIM domain only 7) is a transcription regulator for expression of many Emery-Dreifuss muscular dystrophy-relevant genes, and binds to α-actinin and AF6/afadin at adherens junctions for epithelial cell-cell adhesion. In this study, we found that human LMO7 interacted with the spindle assembly checkpoint (SAC) protein MAD1. LMO7 colocalized with actin filaments at the cell membrane but did not colocalize with MAD1 at kinetochores in prometaphase. Read More

Cells 2017 Oct 22;6(4). Epub 2017 Oct 22.

Department of Biomedical Sciences, Rm 534, Cooper Medical School of Rowan University, 401 South Broadway St., Camden, NJ 08028, USA.

Mutations in the gene encoding emerin cause Emery-Dreifuss muscular dystrophy (EDMD), a disorder causing progressive skeletal muscle wasting, irregular heart rhythms and contractures of major tendons. RNA sequencing was performed on differentiating wildtype and emerin-null myogenic progenitors to identify molecular pathways implicated in EDMD, 340 genes were uniquely differentially expressed during the transition from day 0 to day 1 in wildtype cells. 1605 genes were uniquely expressed in emerin-null cells; 1706 genes were shared among both wildtype and emerin-null cells. Read More

J Clin Neurol 2017 Oct;13(4):405-410

Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.

Background And Purpose: The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine the clinical features that contribute to a delayed diagnosis. Read More

Neurol Neurochir Pol 2018 Mar 25;52(2):174-180. Epub 2017 Sep 25.

1st Department of Cardiology, Medical University of Warsaw, Banacha 1a, Warsaw, Poland.

Mild skeletal muscle symptoms might be accompanied with severe cardiac disease, sometimes indicating a serious inherited disorder. Very often it is a cardiologist who refers a patient with cardiomyopathy and/or cardiac arrhythmia and discrete muscle disease for neurological consultation, which helps to establish a proper diagnosis. Here we present three families in which a diagnosis of skeletal muscle laminopathy was made after careful examination of the members, who presented with cardiac arrhythmia and/or heart failure and a mild skeletal muscle disease, which together with positive family history allowed to direct the molecular diagnostics and then provide appropriate treatment and counseling. Read More

Folia Neuropathol 2017 ;55(3):193-198

Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). As lamins are considered to be mediators of oxidative stress, the antioxidant/oxidant status was examined. The total oxidant/antioxidant status in serum was examined in 29 cases of Emery-Dreifuss muscular dystrophy. Read More

Neurol India 2017 Sep-Oct;65(5):993-1000

Central Library, Thapar University, Patiala, Punjab, India.

Muscular dystrophy is a genetic disorder leading to progressive weakness of muscles caused due to dysfunction in or lack of protein in muscle cells. The prevalence of muscular dystrophy has been observed globally and is becoming a critical area of study for better health services. The purpose of the study is to analyze the research strength of muscular dystrophy using bibliographic literature. Read More