SHORT REPORTSInherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA
References (11)
- et al.
Mitochondrial mutation in fatal infantile cardiomyopathy
Lancet
(1990) - et al.
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)
Lancet
(1991) - et al.
Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy
Biochem Biophys Res Commun
(1990) - et al.
Cardiomyopathy with mitochondrial DNA mutations
Am Heart J
(1991) - et al.
The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy
N Engl J Med
(1992)
Cited by (130)
First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy
2018, Biochemical and Biophysical Research CommunicationsCitation Excerpt :In addition, to the punctual mitochondrial mutations, mitochondrial cardiomyopathy were also but rarely associated with larger mtDNA rearrangements and abnormal reduction in mtDNA content representing mtDNA depletion [12]. Thus, deletions were reported associated with dilated cardiomyopathy [13,14]. However, mtDNA depletion causes heterogeneous group of severe and usually lethal diseases in infancy and childhood like for instance neonates and infants mitochondrial cardiomyopathy [15,16].
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
2017, American Journal of Human GeneticsCitation Excerpt :In the group of disorders with multiple mtDNA deletions, cardiomyopathy is a rare symptom. It is rarely reported in individuals with variants in POLG (MIM: 258450)39–41 and TWNK (MIM: 609286)42 and has been reported in just a single individual with pathogenic variants in MGME1 (MIM: 615084).43 It is more commonly associated with autosomal-recessive deficiency of SLC25A4 (cardiomyopathy types of the disease [MIM: 617184 and 615418]), another mtDNA maintenance gene, although variable mtDNA deletions are usually associated with dominant pathogenic variants in this gene.
The human mitochondrial replication fork in health and disease
2010, Biochimica et Biophysica Acta - BioenergeticsCitation Excerpt :Some patients have additional symptoms such as cardiomyopathy, mild ataxia, parkinsonism and major depression [106]. Patients with adPEO gradually accumulate mtDNA deletions in post-mitotic tissues but do not usually present mtDNA depletion [107,108]. In most patients the adPEO-causing TWINKLE mutations are heterozygous mutations in conserved amino acids [109].
Progress in idiopathic dilated cardiomyopathy: From genotype to clinical phenotype
2007, Revista Espanola de Cardiologia SuplementosMitochondrial encephalomyopathies
2007, Handbook of Clinical NeurologyMolecular genetics of sudden cardiac death in small animals - A review
2006, Veterinary Journal