[HTML][HTML] Pathogenic mitochondrial DNA 3243A> G mutation: from genetics to phenotype

D Li, C Liang, T Zhang, JL Marley, W Zou, M Lian… - Frontiers in …, 2022 - frontiersin.org
The mitochondrial DNA (mtDNA) m. 3243A> G mutation is one of the most common
pathogenic mtDNA variants, showing complex genetics, pathogenic molecular mechanisms …

l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Systematic Review

RJ Stefanetti, YS Ng, L Errington, AP Blain… - Neurology, 2022 - AAN Enterprises
Background and Objectives Stroke management in the context of primary mitochondrial
disease is clinically challenging, and the best treatment options for patients with stroke-like …

[HTML][HTML] Resolving complexity in mitochondrial disease: Towards precision medicine

RM Boggan, A Lim, RW Taylor, R McFarland… - Molecular genetics and …, 2019 - Elsevier
Mitochondrial diseases, caused by mutations in either the nuclear or mitochondrial genomes
(mtDNA), are the most common form of inherited neurometabolic disorders. They are …

Electrolyte disorders in mitochondrial cytopathies: a systematic review

DHHM Viering, L Vermeltfoort… - Journal of the …, 2023 - journals.lww.com
Background Electrolyte reabsorption in the kidney has a high energy demand. Proximal and
distal tubular epithelial cells have a high mitochondrial density for energy release. Recently …

Clinical features of mtDNA-related syndromes in adulthood

V Montano, F Gruosso, C Simoncini, G Siciliano… - Archives of Biochemistry …, 2021 - Elsevier
Mitochondrial diseases are the most common inheritable metabolic diseases, due to defects
in oxidative phosphorylation. They are caused by mutations of nuclear or mitochondrial DNA …

[HTML][HTML] Mitochondrial strokes: diagnostic challenges and chameleons

C Pizzamiglio, E Bugiardini, WL Macken… - Genes, 2021 - mdpi.com
Mitochondrial stroke-like episodes (SLEs) are a hallmark of mitochondrial
encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be …

Stroke-like episodes in adult mitochondrial disease

YS Ng, GS Gorman - Handbook of Clinical Neurology, 2023 - Elsevier
Stroke-like episode is a paroxysmal neurological manifestation which affects a specific
group of patients with mitochondrial disease. Focal-onset seizures, encephalopathy, and …

Gastrointestinal involvement in neuromuscular disorders

J Finsterer, W Strobl - Journal of Gastroenterology and …, 2024 - Wiley Online Library
Although not often discussed, many of the neuromuscular disorders (NMDs) affect the
gastrointestinal tract (GIT). Depending on the type of NMD, the prevalence of GIT …

[HTML][HTML] Ischemic optic neuropathy as first presentation in patient with m. 3243 A> G MELAS classic mutation

S Scarcella, L Dell'Arti, D Gagliardi, F Magri, A Govoni… - BMC neurology, 2023 - Springer
Background Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
(MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from …

Assessing the effect of oral glutamine on the MELAS phenotype requires appropriate study designs

J Finsterer - Neuroradiology, 2024 - Springer
Letter to the Editor We read with interest Guerrero-Molina et al.'s article on a controlled,
prospective, open-label, single-centre study of cerebral concentrations of glutamine and …