Cargando…

Milder Phenotype of Homoplasmic Versus Heteroplasmic m.8344A>G Variant in the Same Family: A Case Report

A myoclonic epilepsy with ragged-red fibers (MERRF) patient who carried the m.8344A>G variant in the homoplasmic form manifested a milder phenotype than his sister who carried the same variant in the heteroplasmic form, which has not yet been reported. The 27-year-old male, with an uneventful his...

Descripción completa

Detalles Bibliográficos
Autores principales:	Finsterer, Josef, Mehri, Sounira
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513505/ https://www.ncbi.nlm.nih.gov/pubmed/36176839 http://dx.doi.org/10.7759/cureus.28490

Ejemplares similares

Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children
por: Russo, Sam Nicholas, et al.
Publicado: (2021)

Pathogenicity of the Homoplasmic m.8701A>G Variant Requires Confirmation
por: Finsterer, Josef, et al.
Publicado: (2016)

Exercise-induced Falls Attributed to the Variant m.8344A>G
por: Finsterer, Josef
Publicado: (2019)

Early Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report
por: Finsterer, Josef, et al.
Publicado: (2023)

LHON Plus Due to the Variant m.3460G > A Requires Extensive Investigation and Close Monitoring
por: Finsterer, Josef, et al.
Publicado: (2022)

Pathogenicity of Variant m.13528A>G in MT-ND5 in Leber’s Hereditary Optic Neuropathy Is Unsupported
por: Finsterer, Josef, et al.
Publicado: (2023)

Heteroplasmic and homoplasmic m.616T>C in mitochondria tRNA(Phe) promote isolated chronic kidney disease and hyperuricemia
por: Xu, Chengxian, et al.
Publicado: (2022)

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation
por: Emperador, Sonia, et al.
Publicado: (2019)

Mitochondrial disorders due to m.3243A>G not meeting diagnostic criteria for MELAS require comprehensive work-up
por: Finsterer, Josef, et al.
Publicado: (2023)

Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case Report
por: Finsterer, Josef, et al.
Publicado: (2023)

Commentary: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an MT-TL1 m.3243A>G point mutation: neuroradiological features and their implications for underlying pathogenesis
por: Finsterer, Josef, et al.
Publicado: (2023)

Phenotypic heterogeneity of the mitochondrial DNA A8344G variant presenting with dorsal midbrain syndrome
por: Kasetty, Megan, et al.
Publicado: (2023)

Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation
por: Shen, Cunzhou, et al.
Publicado: (2018)

Let's not blame cocaine as a cause of rhabdomyolysis until all other causes have been ruled out
por: Finsterer, Josef, et al.
Publicado: (2022)

SARS-CoV-2-related cardiovascular complications in the tropics
por: Finsterer, Josef, et al.
Publicado: (2022)

Apply the Hirano or Japanese criteria when diagnosing MELAS
por: Finsterer, Josef, et al.
Publicado: (2022)

Rule out all differential causes before attributing cerebral bleeding to 5-aminolevulinic acid
por: Finsterer, Josef, et al.
Publicado: (2023)

Stroke thrombolysis or not for an intraventricular thrombus
por: Finsterer, Josef, et al.
Publicado: (2023)

Rule out alternative causes before attributing cerebral hemorrhage to thrombolysis for coronary intervention
por: Finsterer, Josef, et al.
Publicado: (2023)

The nature and severity of SARS-CoV-2 vaccine side effects in athletes are highly dependent on study design
por: Finsterer, Josef, et al.
Publicado: (2023)

Comment on: A rare case of cortical blindness following vaccination against SARS-CoV-2
por: Finsterer, Josef, et al.
Publicado: (2023)

Variable response to Idebenone in LHON is multifactorial
por: Finsterer, Josef, et al.
Publicado: (2023)

A stroke in severe acute respiratory syndrome coronavirus 2 infected is not necessarily a COVID-stroke
por: Mehri, Sounira, et al.
Publicado: (2023)

Caution When Using Valproate for Seizures in POLG1 Carriers
por: Mehri, Sounira, et al.
Publicado: (2023)

Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A > G tRNA (Lys) mutation
por: Finsterer, Josef, et al.
Publicado: (2017)

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)

Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial MTTK c.8344A>G Variant
por: Perera, Uththara, et al.
Publicado: (2018)

A lumbar disc herniation with cauda equine syndrome is more likely due to causes other than lumbar sympathetic neurolysis
por: Finsterer, Josef, 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)

Heteroplasmic mitochondrial DNA variants in cardiovascular diseases
por: Calabrese, Claudia, et al.
Publicado: (2022)

Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes/Leigh Overlap Syndrome Due to Variant m.13513G>A in MT-ND5
por: Finsterer, Josef, et al.
Publicado: (2022)

SARS-CoV-2 associated acute, motor and sensory, axonal neuropathy requires comprehensive diagnostic work-up
por: Finsterer, Josef, et al.
Publicado: (2023)

Phenotypic Diversity of Myoclonus Epilepsy Associated with Ragged-red Fibers with an 8344A>G mtDNA Mutation
por: Miyaue, Noriyuki, et al.
Publicado: (2019)

Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G
por: Finsterer, Josef, et al.
Publicado: (2020)

A PTG Variant Contributes to a Milder Phenotype in Lafora Disease
por: Guerrero, Rosa, et al.
Publicado: (2011)

A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report
por: Almudhry, Montaha, et al.
Publicado: (2023)

Commentary: New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2
por: Finsterer, Josef
Publicado: (2019)

Distal weakness with respiratory insufficiency caused by the m.8344A > G “MERRF” mutation
por: Blakely, Emma L., et al.
Publicado: (2014)

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences
por: Galna, Brook, et al.
Publicado: (2013)

Ischemic and Metabolic Stroke Can Co-occur in m.3243A>G Carriers: A Case Report
por: Finsterer, Josef, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_rspehhtn03q7ksitlbkc3jemqs