Mitochondrial myopathy with a unique presentation of facial and bulbar muscle weakness caused by single large scale mitochondrial DNA deletion

2021 ◽  
Author(s):  
Rui Ban ◽  
Chuanqiang Pu ◽  
Fang Fang ◽  
Qiang Shi
Keyword(s):  
Mitochondrial Dna ◽  
Muscle Weakness ◽  
Mitochondrial Myopathy ◽  
Large Scale ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion

scholarly journals Mechanisms of replication and repair in mitochondrial DNA deletion formation

2020 ◽  
Vol 48 (20) ◽  
pp. 11244-11258
Author(s):  
Gabriele A Fontana ◽  
Hailey L Gahlon
Keyword(s):  
Dna Damage ◽  
Mitochondrial Dna ◽  
Large Scale ◽  
Molecular Mechanisms ◽  
Mitochondrial Dna Deletion ◽  
Deletion Formation ◽  
Dna Deletion ◽  
Mtdna Deletions ◽  
Mtdna Deletion

Abstract Deletions in mitochondrial DNA (mtDNA) are associated with diverse human pathologies including cancer, aging and mitochondrial disorders. Large-scale deletions span kilobases in length and the loss of these associated genes contributes to crippled oxidative phosphorylation and overall decline in mitochondrial fitness. There is not a united view for how mtDNA deletions are generated and the molecular mechanisms underlying this process are poorly understood. This review discusses the role of replication and repair in mtDNA deletion formation as well as nucleic acid motifs such as repeats, secondary structures, and DNA damage associated with deletion formation in the mitochondrial genome. We propose that while erroneous replication and repair can separately contribute to deletion formation, crosstalk between these pathways is also involved in generating deletions.

EARLY RETINAL INVOLVEMENT IN MITOCHONDRIAL MYOPATHY WITH MITOCHONDRIAL DNA DELETION

Retina ◽  
1994 ◽  
Vol 14 (3) ◽  
pp. 270-276 ◽  
Author(s):  
YOSHIE OTA ◽  
YOZO MIYAKE ◽  
SHINOBU AWAYA ◽  
TOSHIYUKI KUMAGAI ◽  
MASASHI TANAKA ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Myopathy ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion

Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction

2000 ◽  
Vol 10 (1) ◽  
pp. 56-58 ◽  
Author(s):  
Yolanda Campos ◽  
Miguel A Martı́n ◽  
Cristina Caballero ◽  
Juan C Rubio ◽  
Francisco de la Cruz ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Large Scale ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion ◽  
Intestinal Pseudo Obstruction

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders

2018 ◽  
Vol 481 ◽  
pp. 156-160 ◽  
Author(s):  
Michela Semeraro ◽  
Sara Boenzi ◽  
Rosalba Carrozzo ◽  
Daria Diodato ◽  
Diego Martinelli ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Organic Acids ◽  
Large Scale ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion ◽  
Urinary Organic Acids

Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion

2002 ◽  
Vol 61 (6) ◽  
pp. 465-467 ◽  
Author(s):  
C Bruno ◽  
P Gandullia ◽  
FM Santorelli ◽  
C Biedi ◽  
I Carbone ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Large Scale ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome

1995 ◽  
Vol 13 (1) ◽  
pp. 69-72 ◽  
Author(s):  
Yolanda Campos ◽  
Teresa Garcia-Silva ◽  
Carlos R. Barrionuevo ◽  
Ana Cabello ◽  
Rafael Muley ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Mitochondrial Myopathy ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion ◽  
Fanconi’S Syndrome ◽  
Fanconi's Syndrome
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