Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome‐9
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2010
Abstract: Succinate‐CoA ligase/synthetase (SCS) deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Variants in SUCLG1, the nuclear gene encoding the alpha subunit of the SCS enzyme playing a pivotal role in… read more here.
Keywords: dna depletion; depletion; depletion syndrome; compound heterozygous ... See more keywords
Prenatal phenotype of FBXL4‐associated encephalomyopathic mitochondrial DNA depletion syndrome‐13
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DOI: 10.1002/pd.6272
Abstract: FBXL4 ‐associated encephalomyopathic mitochondrial DNA depletion syndrome‐13 (MTDPS13) is a rare genetic disorder characterized by early neonatal onset of encephalopathy, seizures, lactic acidosis, hypotonia, dysmorphism, and severe global developmental delay. Prenatal phenotype of molecularly confirmed… read more here.
Keywords: dna depletion; depletion syndrome; encephalomyopathic mitochondrial; mitochondrial dna ... See more keywords
Mitochondrial DNA Depletion Syndromes.
Sign Up to like & getrecommendations! Published in 2020 at "Clinics in perinatology"
DOI: 10.1016/j.clp.2019.10.008
Abstract: Mitochondrial disorders present in a myriad of ways, which causes them to be included in the differential diagnosis for many patients with undiagnosed disease. A subset of mitochondrial disorders are caused by intrinsic defects in… read more here.
Keywords: mitochondrial dna; dna depletion; depletion syndromes;
Generation of an induced pluripotent stem cell line SHCDNi001-A from a one-year-old Chinese girl with mitochondrial DNA depletion syndrome 13.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101832
Abstract: Mitochondrial DNA depletion syndrome-13 (MTDPS13) is a rare autosomal recessive mitochondrial disease caused by mutations in the FBXL4 (F-box and leucine-rich repeat protein 4) gene. Using Sendai virus-mediated reprogramming, we established an induced pluripotent stem… read more here.
Keywords: dna depletion; depletion syndrome; stem cell; mitochondrial dna ... See more keywords
[Mitochondrial DNA depletion syndrome-13: a case with an unusual onset].
Sign Up to like & getrecommendations! Published in 2019 at "Revista de neurologia"
DOI: 10.33588/rn.6910.2019221
Abstract: Síndrome de depleción de ADN mitocondrial tipo 13: un caso con un inicio poco común. read more here.
Keywords: case unusual; dna depletion; depletion syndrome; unusual onset ... See more keywords
Optimizing mycobacteria molecular diagnostics: No decontamination! Human DNA depletion? Greener storage at 4 °C!
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Microbiology"
DOI: 10.3389/fmicb.2023.1104752
Abstract: Introduction Tuberculosis (TB) is an infectious disease caused by the group of bacterial pathogens Mycobacterium tuberculosis complex (MTBC) and is one of the leading causes of death worldwide. Timely diagnosis and treatment of drug-resistant TB… read more here.
Keywords: molecular testing; dna; dna depletion; decontamination ... See more keywords