Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

Mitochondrial A3243G Mutation With Manifestation of Acute Dilated Cardiomyopathy

(2012) Nicolas Stalder et al.   Circulation-Heart Failure

PACES/HRS Expert Consensus Statement on the Management of the Asymptomatic Young Patient with a Wolff-Parkinson-White (WPW, Ventricular Preexcitation) Electrocardiographic Pattern

(2012) Mitchell I. Cohen et al.   HEART RHYTHM

Toward a mtDNA locus-specific mutation database using the LOVD platform

(2012) Joanna L. Elson et al.   HUMAN MUTATION

Electrophysiological Study With Prophylactic Pacing and Survival in Adults With Myotonic Dystrophy and Conduction System Disease

(2012) Karim Wahbi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Recommendations for processing cardiovascular surgical pathology specimens: a consensus statement from the Standards and Definitions Committee of the Society for Cardiovascular Pathology and the Association for European Cardiovascular Pathology

(2011) James R. Stone et al.   CARDIOVASCULAR PATHOLOGY

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy

(2011) Elena Perli et al.   HUMAN MOLECULAR GENETICS

Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: A prospective study

(2011) Matthew G.D. Bates et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy

(2011) Bernard J. Gersh et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Current Status of Endomyocardial Biopsy

(2011) Aaron M. From et al.   MAYO CLINIC PROCEEDINGS

Adenine Nucleotide Translocase 1 Deficiency Results in Dilated Cardiomyopathy With Defects in Myocardial Mechanics, Histopathological Alterations, and Activation of Apoptosis

(2011) Nupoor Narula et al.   JACC-Cardiovascular Imaging

Age-dependent cardiomyopathy in mitochondrial mutator mice is attenuated by overexpression of catalase targeted to mitochondria

(2010) Dao-Fu Dai et al.   AGING CELL

Roles of mitochondria in human disease: Figure 1

(2010) Michael R. Duchen et al.   Essays in Biochemistry

Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease

(2010) Giuseppe Limongelli et al.   EUROPEAN JOURNAL OF HEART FAILURE

Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny

(2010) Michael V Zaragoza et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Left ventricular noncompaction is associated with mutations in the mitochondrial genome

(2010) Sha Tang et al.   MITOCHONDRION

Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA

(2010) K. Wahbi et al.   NEUROLOGY

Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing

(2010) Michael V. Zaragoza et al.   PLoS One

A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy

(2010) Houman Ashrafian et al.   PLoS Genetics

Mitochondrial DNA mutations and human disease

(2009) Helen A.L. Tuppen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

(2009) S M Ware et al.   JOURNAL OF MEDICAL GENETICS

Cardiogenetics, Neurogenetics, and Pathogenetics of Left Ventricular Hypertrabeculation/Noncompaction

(2009) Josef Finsterer   PEDIATRIC CARDIOLOGY

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Resistance training in patients with single, large-scale deletions of mitochondrial DNA

(2008) J. L. Murphy et al.   BRAIN

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

(2008) Sabine Klaassen et al.   CIRCULATION

Causes of death in pedigrees with the 3243A>G mutation in mitochondrial DNA

(2008) K Majamaa-Voltti et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities

(2008) Andrew E. Epstein et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

(2008) Lynsey M Cree et al.   NATURE GENETICS

Electrocardiographic Abnormalities and Sudden Death in Myotonic Dystrophy Type 1

(2008) William J. Groh et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mitochondriopathy: a rare aetiology of restrictive cardiomyopathy

(2008) Christophe Thebault et al.   European Heart Journal-Cardiovascular Imaging

Prevalence of mitochondrial DNA disease in adults

(2007) Andrew M. Schaefer et al.   ANNALS OF NEUROLOGY