Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype.

Mitochondrion - 1 Jul 2025

Lopriore Piervito, Legati Andrea, Neuhofer Christiane Michaela, Lo Gerfo Annalisa, Kopajtich Robert, Barresi Marco, Cecchi Giulia, Pavlov Martin, Izzo Rossella, Montano Vincenzo, Caligo Maria Adelaide, Berutti Riccardo, Mancuso Michelangelo, Prokisch Holger, Ghezzi Daniele

Abstract excerpt

AIM: To identify the genetic cause in a previously unsolved pedigree, with mother and two daughters suffering of dilated cardiomyopathy with prevailing arrhythmic burden associated with diabetes mellitus and sensorineural hearing loss, without clear evidence of progressive external ophthalmoplegia. METHODS: Several genetic tests were performed over the years including single-gene sequencing, mitochondrial DNA...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy, Dilated
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Rearrangement

Share to Mitochondrial Diseases

Share to Pedigree

Share to Phenotype

Share to Sequence Deletion

Source

Identifiers

PMID: 40164291
DOI: 10.1016/j.mito.2025.102037

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype.PMID 40164291Read ↗

Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells.Semantic proximity Read ↗

Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction.Semantic proximity Read ↗

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.Semantic proximity Read ↗

D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?Semantic proximity Read ↗

Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic PatientsSemantic proximity Read ↗

Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.Semantic proximity Read ↗

Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations.Semantic proximity Read ↗

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.Semantic proximity Read ↗

Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing.Semantic proximity Read ↗

Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.