[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 …
pathogenic mtDNA variants, showing complex genetics, pathogenic molecular mechanisms …
l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Systematic Review
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 …
disease is clinically challenging, and the best treatment options for patients with stroke-like …
[HTML][HTML] Resolving complexity in mitochondrial disease: Towards precision medicine
Mitochondrial diseases, caused by mutations in either the nuclear or mitochondrial genomes
(mtDNA), are the most common form of inherited neurometabolic disorders. They are …
(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 …
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 …
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 …
encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be …
Stroke-like episodes in adult mitochondrial disease
Stroke-like episode is a paroxysmal neurological manifestation which affects a specific
group of patients with mitochondrial disease. Focal-onset seizures, encephalopathy, and …
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 …
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 …
(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 …
prospective, open-label, single-centre study of cerebral concentrations of glutamine and …