Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24274
Abstract: Isolated complex I deficiency is the most common cause of pediatric mitochondrial disease. Exome sequencing (ES) has revealed many complex I causative genes. However, there are limitations associated with identifying causative genes by ES analysis.… read more here.
Keywords: deletion ndufv2; complex deficiency; genome sequencing; mitochondrial complex ... See more keywords
Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions
Sign Up to like & getrecommendations! Published in 2017 at "Human Genetics"
DOI: 10.1007/s00439-017-1794-7
Abstract: The genetic basis of the many progressive, multi systemic, mitochondrial diseases that cause a lack of cellular ATP production is heterogeneous, with defects found both in the mitochondrial genome as well as in the nuclear… read more here.
Keywords: medulla oblongata; mutated pet117; mitochondrial disease; complex deficiency ... See more keywords
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.01.008
Abstract: Respiratory chain complex I deficiency is the most frequently identified biochemical defect in childhood mitochondrial diseases. Clinical symptoms range from fatal infantile lactic acidosis to Leigh syndrome and other encephalomyopathies or cardiomyopathies. To date, disease-causing… read more here.
Keywords: cause mitochondrial; ndufb8 mutations; complex deficiency; mutations cause ... See more keywords
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.04.006
Abstract: We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. A heteroplasmic frameshift mutation in the MT-ATP6 gene was confirmed in… read more here.
Keywords: isolated complex; atp6; complex deficiency; frameshift mutation ... See more keywords
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Sign Up to like & getrecommendations! Published in 2020 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2020.10.005
Abstract: Isolated complex I (CI) deficiency is the most common cause of oxidative phosphorylation (OXPHOS) dysfunction. Whole-exome sequencing identified biallelic mutations in NDUFA8 (c.[293G > T]; [293G > T], encoding for an accessory subunit of CI, in two siblings with… read more here.
Keywords: siblings favorable; mutations ndufa8; two siblings; complex deficiency ... See more keywords
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2018.12.006
Abstract: Mitochondrial complex I is encoded by 38 nuclear-encoded and 7 mitochondrial-encoded genes. FOXRED1 is one of the 13 additional nuclear genes known as assembly factors. So far, four patients have been described with complex I… read more here.
Keywords: pulmonary hypertension; foxred1 related; complex deficiency; related complex ... See more keywords
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0286-0
Abstract: Mitochondrial myopathies are a heterogeneous group of disorders associated with a wide range of clinical phenotypes. We present a 16-year-old girl with a history of exercise intolerance since childhood. Acylcarnitine species suggestive of multiple acyl-CoA… read more here.
Keywords: co2; acylcarnitine; deficiency caused; complex deficiency ... See more keywords
Pyruvate dehydrogenase complex deficiency mimicking congenital cytomegalovirus infection on imaging
Sign Up to like & getrecommendations! Published in 2022 at "Baylor University Medical Center Proceedings"
DOI: 10.1080/08998280.2021.1999192
Abstract: Abstract Pyruvate dehydrogenase complex deficiency is a rare and underdiagnosed disease. It can present with clinical manifestations as early as in utero. Both genetic and metabolic testing are available to determine the presence of the… read more here.
Keywords: dehydrogenase complex; complex deficiency; pyruvate dehydrogenase; cytomegalovirus ... See more keywords
Pathways controlling neurotoxicity and proteostasis in mitochondrial complex I deficiency
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DOI: 10.1093/hmg/ddae018
Abstract: Neuromuscular disorders caused by dysfunction of the mitochondrial respiratory chain are common, severe and untreatable. We recovered a number of mitochondrial genes, including electron transport chain components, in a large forward genetic screen for mutations… read more here.
Keywords: pathways controlling; controlling neurotoxicity; proteostasis; complex deficiency ... See more keywords
Manifestations of X‐linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
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DOI: 10.1111/ene.16283
Abstract: Pyruvate dehydrogenase complex deficiency is in up to 90% caused by pathogenic variants in the X‐linked PDHA1 gene. We aimed to investigate female relatives of index patients with PDHA1‐related disease to (i) describe the prevalence… read more here.
Keywords: female pdha1; pdha1 carriers; pyruvate dehydrogenase; complex deficiency ... See more keywords
Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia
Sign Up to like & getrecommendations! Published in 2024 at "BMC Genomics"
DOI: 10.1186/s12864-024-11060-0
Abstract: Leber hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) rare disease due to the pathogenic variant of the NADH dehydrogenase enzyme. LHON is characterized by a sudden central vision loss due to focal degeneration… read more here.
Keywords: optic neuropathy; chain complex; hereditary optic; respiratory chain ... See more keywords