Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.725
Abstract: Mitochondrial methionyl‐tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis. Pathogenic variants in MTFMT have been associated with Leigh syndrome (LS) and mitochondrial multiple respiratory chain deficiencies. We… read more here.
Keywords: leigh syndrome; syndrome caused; mutations mtfmt; mtfmt associated ... See more keywords
Cerebellar Bottom of Fissure Hyperintensities in MT‐ATP6‐Associated Ataxia
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DOI: 10.1002/ana.26311
Abstract: MT-ATP6-associated disease is caused by mutations in the mitochondrial gene MT-ATP6, encoding a subunit of the ATP synthase complex. Clinically, MT-ATP6 mutations were first associated with a syndrome combining neuropathy, ataxia, and retinitis pigmentosa (NARP… read more here.
Keywords: atp6 associated; age; age years; ataxia ... See more keywords
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
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DOI: 10.1002/ana.26313
Abstract: Leigh syndrome (LS) is a heterogeneous neurodegenerative disease and the most frequent pediatric manifestation of mitochondrial disease. In the largest patient collection to date, this study aimed to provide new insights into the clinical and… read more here.
Keywords: syndrome study; 209 patients; patients beijing; study 209 ... See more keywords
Microglial response promotes neurodegeneration in the Ndufs4 KO mouse model of Leigh syndrome
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DOI: 10.1002/glia.24234
Abstract: Leigh syndrome is a mitochondrial disease characterized by neurodegeneration, neuroinflammation, and early death. Mice lacking NDUFS4, a mitochondrial complex I subunit (Ndufs4 KO mice), have been established as a good animal model for studying human… read more here.
Keywords: ndufs4 mice; neuroinflammation; disease; pathology ... See more keywords
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant
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DOI: 10.1002/humu.23753
Abstract: Leigh syndrome is a mitochondrial disease caused by pathogenic variants in over 85 genes. Whole exome sequencing of a patient with Leigh‐like syndrome identified homozygous protein‐truncating variants in two genes associated with Leigh syndrome; a… read more here.
Keywords: truncating variant; variants two; leigh syndrome; protein truncating ... See more keywords
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24303
Abstract: We thank Dr. Finsterer for the comments (Finsterer, 2021) regarding our manuscript (Torraco et al., 2021) and below you will find our responses to his concerns. First of all we agree that the sentence reported… read more here.
Keywords: response phenotypic; variability; leigh syndrome; phenotypic heterogeneity ... See more keywords
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis
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DOI: 10.1002/jimd.12218
Abstract: Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new therapeutic options being proposed, assessing the mortality and clinical condition of Leigh syndrome patients is crucial for evaluating therapeutics. As data are… read more here.
Keywords: leigh syndrome; onset genetic; age; genetic diagnosis ... See more keywords
A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome
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DOI: 10.1002/jimd.12328
Abstract: To the Editor, Recently, De Vries et al. reported the results of a Delphi-based workshop to develop consensus guidelines for physicians prescribing drugs for patients with mitochondrial diseases. The pharmacological management of these subjects is… read more here.
Keywords: acidosis; leigh syndrome; lactic acidosis; rhabdomyolysis ... See more keywords
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
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DOI: 10.1002/jimd.12526
Abstract: Mitochondrial complex V plays an important role in oxidative phosphorylation by catalyzing the generation of ATP. Most complex V subunits are nuclear encoded and not yet associated with recognized Mendelian disorders. Using exome sequencing, we… read more here.
Keywords: mitochondrial complex; variant atp5po; homozygous splice; atp5po ... See more keywords
Adult-onset Leigh syndrome with central fever and peripheral neuropathy due to mitochondrial 9176T>C mutation
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DOI: 10.1007/s10072-018-3541-9
Abstract: Dear Editor, Leigh syndrome (LS) is a progressive neurodegenerative disorder with uniform radiological and neuropathological changes and typically manifests in infants or young children [1]. Occasionally, adult-onset cases of LS have been reported with clinical… read more here.
Keywords: adult onset; leigh syndrome; 9176t mutation; fever ... See more keywords
Early detection of elevated lactate levels in a mitochondrial disease model using chemical exchange saturation transfer (CEST) and magnetic resonance spectroscopy (MRS) with 7T MR imaging
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DOI: 10.1007/s12194-019-00510-0
Abstract: We appreciate the letter in response to our article [1]. Our report revealed that chemical exchange saturation transfer (CEST) and magnetic resonance spectroscopy (MRS) using 7T magnetic resonance imaging (MRI) could detect lactate level elevation… read more here.
Keywords: leigh syndrome; age; lactate; mrs ... See more keywords