Cargando…

Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

Studies have shown that difference in mtDNA mutation load among tissues is a result of postnatal modification. We present five family members with the m.8344A>G with variable phenotypes but uniform intrapersonal distribution of mutation load, indicating that there is no postnatal modification of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jeppesen, Tina Dysgaard, Al‐Hashimi, Noor, Duno, Morten, Wibrand, Flemming, Andersen, Grete, Vissing, John
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715413/ https://www.ncbi.nlm.nih.gov/pubmed/29225851 http://dx.doi.org/10.1002/ccr3.1096

Ejemplares similares

Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues
por: Jeppesen, Tina D., et al.
Publicado: (2020)

Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report
por: Soldath, Patrick, et al.
Publicado: (2017)

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations
por: Ravn, Kirstine, et al.
Publicado: (2015)

β‐Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy
por: Pedersen, Jonas Jalili, et al.
Publicado: (2022)

Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle
por: Fritzen, Andreas M., et al.
Publicado: (2019)

Aerobic Exercise Training in Patients With mtDNA-Related Mitochondrial Myopathy
por: Jeppesen, Tina Dysgaard
Publicado: (2020)

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

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA(Lys)
por: Capristo, Mariantonietta, et al.
Publicado: (2022)

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

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)

Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations
por: Jeppesen, Tina D., et al.
Publicado: (2021)

MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization
por: Ripolone, Michela, et al.
Publicado: (2023)

Genotype and phenotype classification of 29 patients affected by Krabbe disease
por: Madsen, Anna M. H., et al.
Publicado: (2019)

Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation
por: Su, Li-Jun, et al.
Publicado: (2018)

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

Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype
por: Witting, Nanna, et al.
Publicado: (2011)

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

Falling After Starting Running in a Case of Myoclonus Epilepsy Associated with Ragged-red Fibers with a 8344A>G mtDNA Mutation
por: Miyaue, Noriyuki, et al.
Publicado: (2018)

Palbociclib in combination with simvastatin induce severe rhabdomyolysis: a case report
por: Nersesjan, Vardan, et al.
Publicado: (2019)

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency
por: Rasmussen, Jan, et al.
Publicado: (2014)

Mitochondrial mutation m.3243A>G associates with insulin resistance in non-diabetic carriers
por: Langdahl, Jakob Høgild, et al.
Publicado: (2019)

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)

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

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark
por: Witting, Nanna, et al.
Publicado: (2017)

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)

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)

A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases
por: Ostergaard, Elsebet, et al.
Publicado: (2011)

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1
por: Hildonen, Mathis, et al.
Publicado: (2020)

Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features
por: Bayat, Allan, et al.
Publicado: (2022)

Milder Phenotype of Homoplasmic Versus Heteroplasmic m.8344A>G Variant in the Same Family: A Case Report
por: Finsterer, Josef, et al.
Publicado: (2022)

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening
por: Lund, Allan Meldgaard, et al.
Publicado: (2021)

Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption
por: Risom, Lotte, et al.
Publicado: (2013)

Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2
por: Frederiksen, Anja Lisbeth, et al.
Publicado: (2016)

Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability
por: Moore, Heather L., et al.
Publicado: (2019)

Nutritional Interventions for Patients with Mitochondrial POLG-Related Diseases: A Systematic Review on Efficacy and Safety
por: Pedersen, Zandra Overgaard, et al.
Publicado: (2022)

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1
por: Rasmussen, Astrid, et al.
Publicado: (2022)

Mitochondrial dysfunction and risk of cancer
por: Lund, M, et al.
Publicado: (2015)

A Scoping Review Investigating the “Gene-Dosage Theory” of Mitochondrial DNA in the Healthy Skeletal Muscle
por: Pedersen, Zandra Overgaard, et al.
Publicado: (2023)

ATOH1/RFX1/RFX3 transcription factors facilitate the differentiation and characterisation of inner ear hair cell-like cells from patient-specific induced pluripotent stem cells harbouring A8344G mutation of mitochondrial DNA
por: Chen, Yen-Chun, et al.
Publicado: (2018)

Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies
por: Hauerslev, Simon, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_03iai06kqnsm3f7ejfnjl8aolv