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LANCET (2009)
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy
David Hassel et al.
NATURE MEDICINE (2009)
Microvascular Dysfunction, Myocardial Ischemia, and Progression to Heart Failure in Patients with Hypertrophic Cardiomyopathy
Franco Cecchi et al.
JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH (2009)
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene
Nancy D. Merner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies
Raffaella Lombardi et al.
CARDIOVASCULAR RESEARCH (2008)
Mutations in sarcomere protein genes in left ventricular noncompaction
Sabine Klaassen et al.
CIRCULATION (2008)
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology
S. C. Menon et al.
CLINICAL GENETICS (2008)
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy
Mariella Valenzise et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)
Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes
J. P. Kaski et al.
HEART (2008)
Beyond the sarcomere:: CSRP3 mutations cause hypertrophic cardiomyopathy
Christian Geier et al.
HUMAN MOLECULAR GENETICS (2008)
Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return
Raffaella Cinquetti et al.
HUMAN MUTATION (2008)
Left-Dominant Arrhythmogenic Cardiomyopathy
Srijita Sen-Chowdhry et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2008)
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
Maximilian G. Posch et al.
MOLECULAR GENETICS AND METABOLISM (2008)
SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia
Lishen Shan et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Alpha-cardiac actin mutations produce atrial septal defects
Hans Matsson et al.
HUMAN MOLECULAR GENETICS (2008)
Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases
Perry Elliott et al.
EUROPEAN HEART JOURNAL (2008)
Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy
Laetitia Duboscq-Bidot et al.
CARDIOVASCULAR RESEARCH (2008)
Dilated and hypertrophic cardiomyopathy mutations in troponin and α-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments
Paul Robinson et al.
CIRCULATION RESEARCH (2007)
A novel dominant mutation in plakoglobin causes Arrhythmogenic right ventricular cardiomyopathy
Angeliki Asimaki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Acquired noncompaction associated with myopathy
Martin Hofer et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2007)
Danon disease presenting with dilated cardiomyopathy and a complex phenotype
Matthew R. G. Taylor et al.
JOURNAL OF HUMAN GENETICS (2007)
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy
Christine Chiu et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2007)
Extracardiac medical and neuromuscular implications in restrictive cardiomyopathy
Claudia Stoellberger et al.
CLINICAL CARDIOLOGY (2007)
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Bhaswati Pandit et al.
NATURE GENETICS (2007)
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects
Lorenzo Monserrat et al.
EUROPEAN HEART JOURNAL (2007)
Laminin-α4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells
Ralph Knoell et al.
CIRCULATION (2007)
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype
Toru Kubo et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2007)
Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans
Andrew P. Landstrom et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2007)
Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy
Takuro Arimura et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2007)
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
Elena Pegoraro et al.
NEUROMUSCULAR DISORDERS (2007)
Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy
Anita M. Arola et al.
MOLECULAR GENETICS AND METABOLISM (2007)
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy
Christian Kranz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation
Timothy M. Olson et al.
NATURE CLINICAL PRACTICE CARDIOVASCULAR MEDICINE (2007)
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P
M. C. Walter et al.
BRAIN (2007)
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy
Jeanne L. Theis et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)
Mutations of presenilin genes in dilated cardiomyopathy and heart failure
Duanxiang Li et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2
Petros Syrris et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs
Jan A. M. Smeitink et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness
Terumi Murakami et al.
ANNALS OF NEUROLOGY (2006)
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
Caroline Godfrey et al.
ANNALS OF NEUROLOGY (2006)
Incidence, causes, and outcomes of dilated cardiomyopathy in children
Jeffrey A. Towbin et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2006)
Alterations of tension-dependent ATP utilization in a transgenic rat model of hypertrophic cardiomyopathy
Norbert Frey et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects
Eloisa Arbustini et al.
EUROPEAN JOURNAL OF HEART FAILURE (2006)
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
JM Bos et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity
YL Xing et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene
SB Peddy et al.
PEDIATRICS (2006)
SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias
PJ Laitinen-Forsblom et al.
JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY (2006)
Contemporary definitions and classification of the cardiomyopathies - An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; And Council on Epidemiology and Prevention
BJ Maron et al.
CIRCULATION (2006)
αB-crystallin mutation in dilated cardiomyopathy
N Inagaki et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)
Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: Septal morphological features predict the presence of myofilament mutations
J Binder et al.
MAYO CLINIC PROCEEDINGS (2006)
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy
K Pilichou et al.
CIRCULATION (2006)
Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy
VC Vasile et al.
MOLECULAR GENETICS AND METABOLISM (2006)
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy
K Haghighi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Primary prevention of sudden death in patients with lamin A/C gene mutations
C Meune et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy
MRG Taylor et al.
HUMAN MUTATION (2005)
Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac myosin-binding protein c gene among Japanese
T Kubo et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2005)
Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing
DJ Tester et al.
HEART RHYTHM (2005)
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling
J Ingles et al.
JOURNAL OF MEDICAL GENETICS (2005)
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children
Z Yang et al.
CIRCULATION (2005)
Dystrophic heart failure blocked by membrane sealant poloxamer
S Yasuda et al.
NATURE (2005)
The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice
D Szczesna-Cordary et al.
JOURNAL OF CELL SCIENCE (2005)
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy
M Vorgerd et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations
B Bauce et al.
EUROPEAN HEART JOURNAL (2005)
α-Myosin heavy chain -: A sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy
E Carniel et al.
CIRCULATION (2005)
Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation:: evidence of specific morphological substrates
G d'Amati et al.
HUMAN PATHOLOGY (2005)
The kinase domain of titin controls muscle gene expression and protein turnover
S Lange et al.
SCIENCE (2005)
Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation
T Müller et al.
NEUROMUSCULAR DISORDERS (2005)
A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles
DR Williams et al.
NEUROLOGY (2005)
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene
E Villard et al.
EUROPEAN HEART JOURNAL (2005)
Mutation in myosin heavy chain 6 causes atrial septal defect
YH Ching et al.
NATURE GENETICS (2005)
Mutations in ZASP define a novel form of muscular dystrophy in humans
D Selcen et al.
ANNALS OF NEUROLOGY (2005)
Regulatory mutations in transforming growth factor-β3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1
G Beffagna et al.
CARDIOVASCULAR RESEARCH (2005)
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
JH van Berlo et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2005)
Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease)
SR Kaplan et al.
HEART RHYTHM (2004)
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome -: art. no. e61
DBV de Bernabé et al.
JOURNAL OF MEDICAL GENETICS (2004)
A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C
T Arimura et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice
V Nikolova et al.
JOURNAL OF CLINICAL INVESTIGATION (2004)
Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy
RT Murphy et al.
LANCET (2004)
Danon's disease as a cause of hypertrophic cardiomyopathy:: a systematic survey
P Charron et al.
HEART (2004)
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy
T Hayashi et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2004)
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy
N Protonotarios et al.
CARDIOVASCULAR PATHOLOGY (2004)
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations
M Hermida-Prieto et al.
AMERICAN JOURNAL OF CARDIOLOGY (2004)
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32
S Onengut et al.
NEUROMUSCULAR DISORDERS (2004)
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy
J Mogensen et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2004)
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy
SL Van Driest et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2004)
Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15
S Sasse-Klaassen et al.
CIRCULATION (2004)
Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death:: A molecular autopsy of 49 medical examiner/coroner's cases
DJ Tester et al.
MAYO CLINIC PROCEEDINGS (2004)
The biology of desmin filaments:: how do mutations affect their structure, assembly, and organisation?
H Bär et al.
JOURNAL OF STRUCTURAL BIOLOGY (2004)
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
B Gerull et al.
NATURE GENETICS (2004)
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
WP McNair et al.
CIRCULATION (2004)
Novel point mutations in the mitochondrial DNA detected in patients with dilated cardiomyopathy by screening the whole mitochondrial genome
V Ruppert et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2004)
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction
M Vatta et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)
NKX2.5 mutations in patients with congenital heart disease
DB McElhinney et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
DW Benson et al.
JOURNAL OF CLINICAL INVESTIGATION (2003)
Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis
B Mohapatra et al.
MOLECULAR GENETICS AND METABOLISM (2003)
A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair
R Alcalai et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)
Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy
M Arad et al.
CIRCULATION (2003)
Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy
JG Crilley et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)
Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy
S Minamisawa et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
JP Schmitt et al.
SCIENCE (2003)
Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system
CR Bezzina et al.
CIRCULATION RESEARCH (2003)
Cardiomyopathy in children with mitochondrial disease - Clinical course and cardiological findings
D Holmgren et al.
EUROPEAN HEART JOURNAL (2003)
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations
J Mogensen et al.
JOURNAL OF CLINICAL INVESTIGATION (2003)
The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy
R Knöll et al.
CELL (2002)
A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation
RE Hershberger et al.
AMERICAN HEART JOURNAL (2002)
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
A Rampazzo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy
S Daehmlow et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2002)
Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders
C Stöllberger et al.
AMERICAN JOURNAL OF CARDIOLOGY (2002)
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
P Hackman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
MC Digilio et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
PTPN11 mutations in Noonan syndrome:: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
M Tartaglia et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Titin mutations as the molecular basis for dilated cardiomyopathy
M Itoh-Satoh et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2002)
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
B Gerull et al.
NATURE GENETICS (2002)
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly
H Niimura et al.
CIRCULATION (2002)
Metavinculin mutations alter actin interaction in dilated cardiomyopathy
TM Olson et al.
CIRCULATION (2002)
Rescue of hereditary form of dilated cardiomyopathy by rAAV-mediated somatic gene therapy: Amelioration of morphological findings, sarcolemmal permeability, cardiac performances, and the prognosis of TO-2 hamsters
T Kawada et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Ca2+-desensitizing effect of a deletion mutation ΔK210 in cardiac troponin T that causes familial dilated cardiomyopathy
S Morimoto et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
M Tartaglia et al.
NATURE GENETICS (2001)
Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy
R Jenni et al.
HEART (2001)
The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation
JS Davis et al.
CELL (2001)
Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy
SF Nagueh et al.
CIRCULATION (2001)
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome
MH Gollob et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
Mutations in the γ2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy:: evidence for the central role of energy compromise in disease pathogenesis
E Blair et al.
HUMAN MOLECULAR GENETICS (2001)
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy
TM Olson et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2001)
Hypercontractile properties of cardiac muscle fibers in a knock-in mouse model of cardiac myosin-binding protein-C
CC Witt et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
N Tiso et al.
HUMAN MOLECULAR GENETICS (2001)
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
M Kamisago et al.
NEW ENGLAND JOURNAL OF MEDICINE (2000)
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
EE Norgett et al.
HUMAN MOLECULAR GENETICS (2000)
Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy
T Arimura et al.
HUMAN GENETICS (2000)
Decoding calcium signals involved in cardiac growth and function
N Frey et al.
NATURE MEDICINE (2000)
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
I Nishino et al.
NATURE (2000)
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
G McKoy et al.
LANCET (2000)
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
A Muchir et al.
HUMAN MOLECULAR GENETICS (2000)
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
ES Moreira et al.
NATURE GENETICS (2000)
Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations
R Barresi et al.
JOURNAL OF MEDICAL GENETICS (2000)
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
S Tsubata et al.
JOURNAL OF CLINICAL INVESTIGATION (2000)
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