Emery-Dreifuss syndrome.

J Med Genet. 26: 637-641

Unusual type of benign x-linked muscular dystrophy.

J Neurol Neurosurg Psychiatry. 29: 338-342

X-linked muscular dystrophy, benign form with contractures.

Birth Defects Orig Artic Ser. 7: 113-115Bonne G Yaou RB Beroud C Boriani G Brown S de Visser M et al.108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, Naarden, The Netherlands. Neuromuscul Disord13. : 508-515 ()Durmus H. Oflazer P. Deymeer F.

Emery-Dreifuss Muscular Dystrophy: Nuclear Envelopathies.

()Neuromuscular Disorders of Infancy, Childhood, and Adolescence A Clinician's Approach. editor, : 667-678Worman HJ Ostlund C Wang Y.

Diseases of the nuclear envelope.

Cold Spring Harb Perspect Biol. 2 ()

The nuclear envelope from basic biology to therapy.

Biochem Soc Trans. 38: 253-256

Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.

Handb Clin Neurol. 113: 1367-1376Le Thanh P Meinke P Korfali N Srsen V Robson MI Wehnert M et al.

Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.

Neuromuscul Disord. 27: 338-351

New messages in the nuclear envelope.

Cell Cycle. 9: 645-646Meinke P Mattioli E Haque F Antoku S Columbaro M Straatman KR et al.

Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.

PLoS Genet. 10e1004605Bione S Maestrini E Rivella S Mancini M Regis S Romeo G et al.

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.

Nat Genet. 8: 323-327Norwood FL Harling C Chinnery PF Eagle M Bushby K Straub V.

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.

Brain. 132: 3175-3186Bonne G Leturcq F Ben Yaou R et al.

Emery-Dreifuss Muscular Dystrophy.

GeneReviews((R)). Seattle (WA), ()Raffaele Di Barletta M Ricci E Galluzzi G Tonali P Mora M Morandi L et al.

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Am J Hum Genet. 66: 1407-1412Bonne G Di Barletta MR Varnous S Becane HM Hammouda EH Merlini L et al.

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

Nat Genet. 21: 285-288Zhang Q Bethmann C Worth NF Davies JD Wasner C Feuer A et al.

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

Hum Mol Genet. 16: 2816-2833Zhou C Li C Zhou B Sun H Koullourou V Holt I et al.

Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.

Hum Mol Genet. 26: 2258-2276Puckelwartz MJ Kessler EJ Kim G Dewitt MM Zhang Y Earley JU et al.

Nesprin-1 mutations in human and murine cardiomyopathy.

J Mol Cell Cardiol. 48: 600-608Liang WC Mitsuhashi H Keduka E Nonaka I Noguchi S Nishino I et al.

TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.

Ann Neurol. 69: 1005-1013Gueneau L Bertrand AT Jais JP Salih MA Stojkovic T Wehnert M et al.

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Am J Hum Genet. 85: 338-353

Clinical aspects of Emery-Dreifuss muscular dystrophy.

Nucleus. 9: 268-274Madej-Pilarczyk A Kochanski A.

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Folia Neuropathol. 54: 1-8Jimenez-Escrig A Gobernado I Garcia-Villanueva M Sanchez-Herranz A.

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

Muscle Nerve. 45: 605-610

Emery-Dreifuss muscular dystrophy and other related disorders.

Br Med Bull. 45: 772-787Puckelwartz M McNally EM.

Emery-Dreifuss muscular dystrophy.

Handb Clin Neurol. 101: 155-166

Emery-Dreifuss muscular dystrophy - a 40 year retrospective.

Neuromuscul Disord. 10: 228-232Hausmanowa-Petrusewicz I Madej-Pilarczyk A Marchel M Opolski G.

Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest.

Neurol Neurochir Pol. 43: 415-420Carvalho AA Levy JA Gutierrez PS Marie SK Sosa EA Scanavaca M.

Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report).

Arq Neuropsiquiatr. 58: 1123-1127Astejada MN Goto K Nagano A Ura S Noguchi S Nonaka I et al.

Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

Acta Myol. 26: 159-164Goldblatt J Schram LJ Wallis G Oswald A Beighton P.

Emery-Dreifuss syndrome and X-linked muscular dystrophy with contractures: evidence for homogeneity.

Clin Genet. 35: 1-4Voit T Krogmann O Lenard HG Neuen-Jacob E Wechsler W Goebel HH et al.

Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis.

Neuropediatrics. 19: 62-71Deymeer F Oge AE Bayindir C Kaymaz C Nisanci Y Adalet K et al.

Emery-Dreifuss muscular dystrophy with unusual features.

Muscle Nerve. 16: 1359-1365

X linked muscular dystrophy with contractures.

J Med Genet. 23: 591-595Thomas PK Calne DB Elliott CF.

X-linked scapuloperoneal syndrome.

J Neurol Neurosurg Psychiatry. 35: 208-215Helbling-Leclerc A Bonne G Schwartz K.

Emery-Dreifuss muscular dystrophy.

Eur J Hum Genet. 10: 157-161Mora M Cartegni L Di Blasi C Barresi R Bione S Raffaele di Barletta M et al.

X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.

Ann Neurol. 42: 249-253Ellis JA Craxton M Yates JR Kendrick-Jones J.

Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype.

J Cell Sci. 111: 781-792Funakoshi M Tsuchiya Y Arahata K.

Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy.

Neuromuscul Disord. 9: 108-114

Atrial paralysis in a patient with Emery-Dreifuss muscular dystrophy.

Pacing Clin Electrophysiol. 15: 135-140Wozakowska-Kaplon B Bakowski D.

Atrial paralysis due to progression of cardiac disease in a patient with Emery-Dreifuss muscular dystrophy.

Cardiol J. 18: 189-193Boriani G Gallina M Merlini L Bonne G Toniolo D Amati S et al.

Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.

Stroke. 34: 901-908Fujiita T Shimizu M Kaku B Kanaya H Horita Y Uno Y et al.

Abnormal sympathetic innervation of the heart in a patient with Emery-Dreifuss muscular dystrophy.

Ann Nucl Med. 19: 411-414Nigro G Russo V Ventriglia VM Della Cioppa N Palladino A Nigro V et al.

Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy.

Neuromuscul Disord. 20: 174-177Vohanka S Vytopil M Bednarik J Lukas Z Kadanka Z Schildberger J et al.

A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy.

Neuromuscul Disord. 11: 411-413Heller SA Shih R Kalra R Kang PB.

Emery-Dreifuss muscular dystrophy.

Muscle Nerve. 61: 436-448

Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.

Int Heart J. 60: 12-18Steckiewicz R Stolarz P Swieton E Madej-Pilarczyk A Grabowski M Marchel M et al.

Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up.

Kardiol Pol. 74: 576-583Carboni N Mura M Mercuri E Marrosu G Manzi RC Cocco E et al.

Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy.

Neuromuscul Disord. 22: 152-158

Emerin and the nuclear lamina in muscle and cardiac disease.

Circ Res. 103: 16-23Hopkins LC Jackson JA Elsas LJ.

Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia.

Ann Neurol. 10: 230-237Ishikawa T Mishima H Barc J Takahashi MP Hirono K Terada S et al.

Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction.

Circ Arrhythm Electrophysiol. 13e008712Tanaka K Uehara T Sato K Amano T Minematsu K Toyoda K.

Successful intravenous rt-PA thrombolysis for a childhood cardioembolic stroke with Emery-Dreifuss muscular dystrophy.

Cerebrovasc Dis. 33: 92-93Yates JR Bagshaw J Aksmanovic VM Coomber E McMahon R Whittaker JL et al.

Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.

Neuromuscul Disord. 9: 159-165Brown CA Scharner J Felice K Meriggioli MN Tarnopolsky M Bower M et al.

Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.

J Hum Genet. 56 (): 589-594Haraguchi T Holaska JM Yamane M Koujin T Hashiguchi N Mori C et al.

Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.

Eur J Biochem. 271: 1035-1045Zhang M Chen J Si D Zheng Y Jiao H Feng Z et al.

Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.

BMC Med Genet. 15: 77

Emerin deletions occurring on both Xq28 inversion backgrounds.

Hum Mol Genet. 7: 135-139Song D Li X Wei W Liu X Wu L Xiong H.

Microhomology-Mediated Nonhomologous End Joining Caused Rearrangement of EMD and FLNA in Emery-Dreifuss Muscular Dystrophy.

Front Genet. 12786294

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.

Nat Genet. 16: 96-99Diaz-Manera J Alejaldre A Gonzalez L Olive M Gomez-Andres D Muelas N et al.

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.

Neuromuscul Disord. 26: 33-40Mercuri E Counsell S Allsop J Jungbluth H Kinali M Bonne G et al.

Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.

Neuropediatrics. 33: 10-14Lin HT Liu X Zhang W Liu J Zuo YH Xiao JX et al.

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy.

Chin Med J (Engl). 131: 1472-1479Meinke P Schneiderat P Srsen V Korfali N Le Thanh P Cowan GJ et al.

Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy.

Neuromuscul Disord. 25: 127-136Carboni N Mura M Politano L Cocco E Marrosu G Marrosu MG.

Muscle MRI in female carriers of emerinopathy.

Eur J Neurol. 20: e127Fishbein MC Siegel RJ Thompson CE Hopkins LC.

Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy.

Ann Intern Med. 119: 900-905Viggiano E Madej-Pilarczyk A Carboni N Picillo E Ergoli M Gaudio SD et al.

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

Genes (Basel). 10Bonne G Mercuri E Muchir A Urtizberea A Becane HM Recan D et al.

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Ann Neurol. 48: 170-180Brown CA Lanning RW McKinney KQ Salvino AR Cherniske E Crowe CA et al.

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

Am J Med Genet. 102: 359-367Dai Y Wei X Zhao Y Ren H Lan Z Yang Y et al.

A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.

Neuromuscul Disord. 25: 617-624Fattahi Z Kalhor Z Fadaee M Vazehan R Parsimehr E Abolhassani A et al.

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

Clin Genet. 91: 386-402

Human laminopathies: nuclei gone genetically awry.

Nat Rev Genet. 7: 940-952

The envelope, please: nuclear lamins and disease.

Nat Med. 6: 136-137Brodsky GL Muntoni F Miocic S Sinagra G Sewry C Mestroni L.

Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.

Circulation. 101: 473-476Taylor MR Fain PR Sinagra G Robinson ML Robertson AD Carniel E et al.

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

J Am Coll Cardiol. 41: 771-780