Rare Phenotypic Manifestations of MELAS

scientific article published on 01 October 2020

Rare Phenotypic Manifestations of MELAS is …
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scholarly articleQ13442814

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P356DOI10.3349/YMJ.2020.61.10.904
P932PMC publication ID7515779
P698PubMed publication ID32975067

P50authorJosef FinstererQ57071869
P2860cites workMutism and acute behavioral disorders revealing MELAS syndromeQ50434269
MELAS: a nationwide prospective cohort study of 96 patients in JapanQ50434498
Adrenal insufficiency in a child with MELAS syndrome.Q53624147
Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case reportQ64057579
New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2Q64065231
A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndromeQ64866488
MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from TaiwanQ71730713
Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosisQ71855140
Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesQ82454694
The clinical characteristics of patients with mitochondrial tRNA Leu(UUR)m.3243A > G mutation: Compared with type 1 diabetes and early onset type 2 diabetesQ88283261
Metabolic stroke or stroke-like lesion: Peculiarities of a phenomenonQ89844801
MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet geneQ91440762
Adult onset MELAS Syndrome Presenting as A Mimic of Herpes Simplex EncephalitisQ92194553
Audiological and Vestibular Findings in Subjects with MELAS SyndromeQ92196983
Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>CQ92613783
Late-onset Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) Syndrome in a 63-year-old PatientQ96128872
High rate of hypertension in patients with m.3243A>G MELAS mutations and POLG variantsQ96166270
Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case reportQ96583800
Melas: an original case and clinical criteria for diagnosisQ28201094
A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndromeQ30575264
MELAS with A3243G mutation presenting with occipital status epilepticusQ33437374
Arrhythmia as a cardiac manifestation in MELAS syndromeQ36571525
A MELAS syndrome family harboring two mutations in mitochondrial genomeQ37184894
A case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) with treatment-resistant status epilepticus that was effectively treated with lamotrigineQ40228390
Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) geneQ41927652
Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G).Q41939481
Clinical and genetic features in a MELAS child with a 3271T>C mutationQ42523814
Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).Q44224095
A case with late-onset MELAS with hallucination and delusionQ44966778
MELAS A3243G mitochondrial DNA mutation and age related maculopathyQ45209427
Mitochondrial A3243G mutation results in corneal endothelial polymegathism.Q47548533
Late onset MELAS with m.3243A > G mutation and its association with aneurysm formationQ48254998
Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies.Q48411737
Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodesQ48651294
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutationQ48652346
Retinal detachment and microangiopathy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndromeQ50025505
The phenotypic spectrum of fifty Czech m.3243A>G carriers.Q50316452
Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronismQ50357795
P275copyright licenseCreative Commons Attribution-NonCommercial 4.0 InternationalQ34179348
P6216copyright statuscopyrightedQ50423863
P433issue10
P304page(s)904-906
P577publication date2020-10-01
P1433published inYonsei Medical JournalQ8055114
P1476titleRare Phenotypic Manifestations of MELAS
P478volume61

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