Cargando…

Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy

BACKGROUND: Mitochondrial myopathies (MM) are a heterogeneous group of inherited conditions resulting from a primary defect in the mitochondrial respiratory chain with consecutively impaired cellular energy metabolism. Small sized studies using mainly electrocardiography (ECG) and echocardiography h...

Descripción completa

Detalles Bibliográficos
Autores principales:	Florian, Anca, Ludwig, Anna, Stubbe-Dräger, Bianca, Boentert, Matthias, Young, Peter, Waltenberger, Johannes, Rösch, Sabine, Sechtem, Udo, Yilmaz, Ali
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490728/ https://www.ncbi.nlm.nih.gov/pubmed/26001801 http://dx.doi.org/10.1186/s12968-015-0145-x

Ejemplares similares

Cardiac abnormalities in patients with two different mitochondrial myopathy syndromes as detected by cardiovascular magnetic resonance imaging
por: Florian, Anca R, et al.
Publicado: (2015)

Magnetic resonance of the heart in a muscular dystrophy patient with an MR conditional ICD: Assessment of safety, diagnostic value and technical limitations
por: Florian, Anca, et al.
Publicado: (2013)

Differences in cardiac involvement between carriers of Duchenne and Becker muscular dystrophy - a cardiovascular magnetic resonance study
por: Florian, Anca R, et al.
Publicado: (2015)

Left ventricular systolic function and the pattern of late-gadolinium-enhancement independently and additively predict adverse cardiac events in muscular dystrophy patients
por: Florian, Anca, et al.
Publicado: (2014)

Identification of cardiomyopathy associated circulating miRNA biomarkers in patients with muscular dystrophy using a complementary cardiovascular magnetic resonance and plasma profiling approach
por: Becker, Svetlana, et al.
Publicado: (2016)

Positive effect of intravenous iron-oxide administration on left ventricular remodelling in patients with acute ST-elevation myocardial infarction - a cardiovascular magnetic resonance (CMR) study
por: Florian, Anca, et al.
Publicado: (2014)

Pattern and prognostic value of cardiac involvement in patients with late-onset pompe disease: a comprehensive cardiovascular magnetic resonance approach
por: Boentert, Matthias, et al.
Publicado: (2016)

Myocardial fibrosis imaging based on T1-mapping and extracellular volume fraction (ECV) measurement in muscular dystrophy patients: proof of additional diagnostic value compared to conventional late gadolinium enhancement (LGE) imaging
por: Florian, Anca, et al.
Publicado: (2014)

Myocardial extracellular volume fraction (ECV) measurements based on T1-mapping in healthy monozygotic twins - another similarity or rather disagreement in twins?
por: Florian, Anca R, et al.
Publicado: (2015)

Identification of Cardiomyopathy-Associated Circulating miRNA Biomarkers in Muscular Dystrophy Female Carriers Using a Complementary Cardiac Imaging and Plasma Profiling Approach
por: Florian, Anca, et al.
Publicado: (2018)

Molecular magnetic resonance imaging (MRI) of inflamed myocardium using ferucarbotran in patients with acute myocardial infarction
por: Yilmaz, Ali, et al.
Publicado: (2011)

Genotype-phenotype correlations in recessive RYR1-related myopathies
por: Amburgey, Kimberly, et al.
Publicado: (2013)

GNE genotype explains 20% of phenotypic variability in GNE myopathy
por: Pogoryelova, Oksana, et al.
Publicado: (2019)

The diagnostic value of iron oxide nanoparticles for imaging of myocardial inflammation – quo vadis?
por: Bietenbeck, Michael, et al.
Publicado: (2015)

Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy
por: Chang, Xingzhi, et al.
Publicado: (2022)

Diagnostic capability of CMR for the diagnosis of acute myocarditis in young patients is determined by the presence of elevated cardiac enzymes
por: Schäufele, Tim G, et al.
Publicado: (2012)

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark
por: Witting, Nanna, et al.
Publicado: (2017)

Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey
por: Kutluk, Muhammet G., et al.
Publicado: (2021)

Remote magnetic targeting of iron oxide nanoparticles for cardiovascular diagnosis and therapeutic drug delivery: where are we now?
por: Bietenbeck, Michael, et al.
Publicado: (2016)

A rare case of centronuclear myopathy with DNM2 mutation: genotype–phenotype correlation
por: Aghbolaghi, Amir Ghorbani, et al.
Publicado: (2017)

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion
por: Pogoryelova, Oksana, et al.
Publicado: (2018)

The Clinical Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies
por: Shah, Mona, et al.
Publicado: (2013)

Respiratory parameters on diagnostic sleep studies predict survival in patients with amyotrophic lateral sclerosis
por: Engel, Markus, et al.
Publicado: (2021)

Genotype and phenotype variability in Sjögren‐Larsson syndrome
por: Weustenfeld, Maximilian, et al.
Publicado: (2018)

First insights into the genotype–phenotype map of phenotypic stability in rye
por: Wang, Yu, et al.
Publicado: (2015)

The Myositis Autoantibody Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies
por: Rider, Lisa G., et al.
Publicado: (2013)

Congenital myopathies: clinical phenotypes and new diagnostic tools
por: Cassandrini, Denise, et al.
Publicado: (2017)

Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy
por: Hayes, Leslie Hotchkiss, et al.
Publicado: (2022)

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies
por: Dosi, Claudia, et al.
Publicado: (2023)

A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy
por: Sakiyama, Yusuke, et al.
Publicado: (2011)

An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank
por: Yonova-Doing, Ekaterina, et al.
Publicado: (2021)

Cytokines Genotype-Phenotype Correlation in Nonalcoholic Steatohepatitis
por: Bocsan, Ioana Corina, et al.
Publicado: (2017)

Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
por: Starace, Michela, et al.
Publicado: (2023)

Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years
por: Werlauff, U., et al.
Publicado: (2015)

Recent advances in cardiac magnetic resonance
por: Greulich, Simon, et al.
Publicado: (2016)

Molecular Phenotyping of White Striping and Wooden Breast Myopathies in Chicken
por: Praud, Christophe, et al.
Publicado: (2020)

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations
por: Shahni, Rojeen, et al.
Publicado: (2013)

Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy
por: King, Martin S., et al.
Publicado: (2018)

A review on the importance of genotyping and phenotyping in fluoropyrimidine treatment
por: Deac, Andrada-Larisa, et al.
Publicado: (2020)

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia
por: Riley, Lisa G, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_9qumd573fuq3dbscajo0jppld8