Cargando…

Case report: MELAS and T3271C mitochondrial mutation in an adult woman

INTRODUCTION: Patients with mitochondrial disorders always show neurological deficits. However, the diversity of clinical manifestations, genetic heterogeneity and threshold effect caused by maternal heredity make its diagnosis very challenging. CASE PRESENTATION: A 30-year-old female presented to o...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Dong-hua, Li, Wei, Jiang, Hai-shan, Yuan, Chao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413099/ https://www.ncbi.nlm.nih.gov/pubmed/37576015 http://dx.doi.org/10.3389/fneur.2023.1179992

Ejemplares similares

Case report: MELAS and concomitant presumed antiphospholipid antibody syndrome in an adult woman
por: Nouduri, Sirisha, et al.
Publicado: (2022)

Run no. 19. 3.2.71
por: Hansen, S
Publicado: (1971)

MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies
por: Wei, Yanping, et al.
Publicado: (2021)

Elderly onset of MELAS in a male: A case report
por: Diao, Sheng-Peng, et al.
Publicado: (2022)

Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome
por: Zhao, Qiu Yan, et al.
Publicado: (2022)

KL1333, a Novel NAD(+) Modulator, Improves Energy Metabolism and Mitochondrial Dysfunction in MELAS Fibroblasts
por: Seo, Kang-Sik, et al.
Publicado: (2018)

A patient with MELAS syndrome combined with autoimmune abnormalities: a case report
por: Zhao, Mingmin, et al.
Publicado: (2023)

Late-onset mitochondrial disease in a patient with MELAS and mitochondrial DNA T14487C mutation
por: Xu, Xue-Bi, et al.
Publicado: (2019)

MELAS syndrome due to the m.3291T > C mutation
por: Finsterer, Josef, et al.
Publicado: (2016)

A Case Report of Neuronal Intranuclear Inclusion Disease Presenting With Recurrent Migraine-Like Attacks and Cerebral Edema: A Mimicker of MELAS
por: Xie, Fei, et al.
Publicado: (2022)

Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
por: Ikeda, Takahiro, et al.
Publicado: (2018)

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature
por: Gagliardi, Delia, et al.
Publicado: (2019)

Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic
por: Pröbstel, Anne-Katrin, et al.
Publicado: (2016)

High-Grade Temporal Ganglioglioma in an Older Adult Woman
por: Lozano Guzmán, Isauro, et al.
Publicado: (2023)

Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report
por: Lee, Sang-Hyup, et al.
Publicado: (2023)

Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report
por: Lee, Sang-Hyup, et al.
Publicado: (2023)

Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations
por: Gramegna, Laura L., et al.
Publicado: (2021)

Diagnosis of adult-onset MELAS with suspected recurrent strokes: A case report
por: Yang, Fei, et al.
Publicado: (2022)

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome
por: Chakrabarty, Sanjiban, et al.
Publicado: (2021)

Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient
por: Ishikawa, Ruoyi, et al.
Publicado: (2023)

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
por: Li, Tao-Ran, et al.
Publicado: (2019)

Case report: Hereditary spastic paraplegia with a novel homozygous mutation in ZFYVE26
por: Lai, Ze-hua, et al.
Publicado: (2023)

Addendum: A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
por: Li, Tao-Ran, et al.
Publicado: (2019)

MELAS and macroangiopathy: A case report and literature review
por: Sun, Xiangrong, et al.
Publicado: (2018)

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
por: Lee, Sunho, et al.
Publicado: (2019)

Mitochondrial Transfer of Wharton's Jelly Mesenchymal Stem Cells Eliminates Mutation Burden and Rescues Mitochondrial Bioenergetics in Rotenone-Stressed MELAS Fibroblasts
por: Lin, Tsu-Kung, et al.
Publicado: (2019)

Arrhythmias in MELAS syndrome
por: Finsterer, Josef, et al.
Publicado: (2016)

Phenotypic heterogeneity of MELAS()()
por: Finsterer, Josef, et al.
Publicado: (2016)

The Sanitary Aspect of "Melas."
Publicado: (1867)

Impaired Hearing in MELAS
por: Finsterer, Josef
Publicado: (2022)

Mitochondrial haplotype mutation alleviates respiratory defect of MELAS by restoring taurine modification in tRNA with 3243A > G mutation
por: Ueda, Saori, et al.
Publicado: (2023)

Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW
por: Wang, Shuang, et al.
Publicado: (2021)

Intramyocellular lipid excess in the mitochondrial disorder MELAS: MRS determination at 7T
por: Golla, Sailaja, et al.
Publicado: (2017)

Molecular Investigation of Mitochondrial RNA19 Role in the Pathogenesis of MELAS Disease
por: Loguercio Polosa, Paola, et al.
Publicado: (2023)

Commentary: Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
por: Finsterer, Josef
Publicado: (2019)

TALEN-mediated shift of mitochondrial DNA heteroplasmy in MELAS-iPSCs with m.13513G>A mutation
por: Yahata, Naoki, et al.
Publicado: (2017)

A Rare Case of a Balo's Concentric Sclerosis-Like Lesion in a Young Adult Woman
por: Vickaryous, Kailee, et al.
Publicado: (2023)

Microhemorrhages in MELAS Lesions: A Case Report
por: Martens, Evelien, et al.
Publicado: (2022)

The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene
por: Keilland, E., et al.
Publicado: (2016)

Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1
por: Wang, Wei, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_9sdn469gqh4vn57347q6vs6js8