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
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
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
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DOI: 10.1038/s41436-019-0613-z
Abstract: Purpose Mitochondrial DNA (mtDNA) depletion syndrome (MDDS) encompasses a group of genetic disorders of mtDNA maintenance. Mutation of RRM2B is an uncommon cause of infantile-onset encephalomyopathic MDDS. Here we describe the natural history of this… read more here.
Keywords: rrm2b; depletion syndrome; natural history; 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
Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease
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DOI: 10.3389/fcvm.2021.808115
Abstract: Mitochondria is a ubiquitous, energy-supplying (ATP-based) organelle found in nearly all eukaryotes. It acts as a “power plant” by producing ATP through oxidative phosphorylation, providing energy for the cell. The bioenergetic functions of mitochondria are… read more here.
Keywords: disease; depletion syndrome; mitochondrial dna;