Mitochondrial diseases caused by mtDNA mutations: a mini-review

AI Ryzhkova, MA Sazonova, VV Sinyov… - … and clinical risk …, 2018 - Taylor & Francis
There are several types of mitochondrial cytopathies, which cause a set of disorders, arise
as a result of mitochondria's failure. Mitochondria's functional disruption leads to …

[HTML][HTML] When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?

PJ Lorenzoni, LC Werneck, CSK Kay… - Arquivos de neuro …, 2015 - SciELO Brasil
ABSTRACT Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like
episodes (MELAS) is a rare mitochondrial disorder. Diagnostic criteria for MELAS include …

Mitochondrial metabolic stroke: phenotype and genetics of stroke-like episodes

J Finsterer - Journal of the Neurological Sciences, 2019 - Elsevier
Stroke-like episodes (SLEs) are the hallmark of mitochondrial encephalopathy with lactic
acidosis and stroke-like episode (MELAS) syndrome but rarely occur also in other specific or …

[HTML][HTML] Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and …

O Bar, L Ebenau, K Weiner, M Mintz… - Frontiers in …, 2023 - frontiersin.org
Objective To utilize whole exome or genome sequencing and the scientific literature for
identifying candidate genes for cyclic vomiting syndrome (CVS), an idiopathic migraine …

[HTML][HTML] The broadening spectrum of mitochondrial disease: shifts in the diagnostic paradigm

C Liang, K Ahmad, CM Sue - Biochimica et Biophysica Acta (BBA)-General …, 2014 - Elsevier
Background The diagnosis of mitochondrial disease requires a complex synthesis of clinical,
biochemical, histological, and genetic investigations. An expanding number of mitochondrial …

[HTML][HTML] Mitochondrial vasculopathy

J Finsterer, S Zarrouk-Mahjoub - World Journal of Cardiology, 2016 - ncbi.nlm.nih.gov
Mitochondrial disorders (MIDs) are usually multisystem disorders (mitochondrial multiorgan
disorder syndrome) either on from onset or starting at a point during the disease course …

Cardiac complications in inherited mitochondrial diseases

M Behjati, MR Sabri, M Etemadi Far, M Nejati - Heart Failure Reviews, 2021 - Springer
Maternally mitochondrial dysfunction includes a heterogeneous group of genetic disorders
which leads to the impairment of the final common pathway of energy metabolism. Coronary …

Cardiovascular events in adult polymyositis and dermatomyositis: a meta-analysis of observational studies

A Xiong, Z Hu, S Zhou, Y Qiang, Z Song, H Chen… - …, 2022 - academic.oup.com
Objectives We aimed to review whether PM and DM patients have an increased
cardiovascular (CV) risk, including ischaemic heart disease (IHD), cerebrovascular …

Stroke in Duchenne muscular dystrophy: a retrospective longitudinal study in 54 patients

M Winterholler, C Holländer, F Kerling, I Weber… - Stroke, 2016 - Am Heart Assoc
Background and Purpose—Duchenne muscular dystrophy (DMD) is the most frequent
skeletal muscle myopathy. Nearly all patients develop cardiomyopathy in their second …

Stroke-like episodes, peri-episodic seizures, and MELAS mutations

J Finsterer, SM Wakil - European Journal of Paediatric Neurology, 2016 - Elsevier
Abstract Purpose Stroke-like episodes (SLEs) are a hallmark of various mitochondrial
disorders, in particular MELAS syndrome. SLEs manifest with vasogenic oedema (DWI and …