Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
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Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine proteaseDeficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletionMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsStructural basis for the binding of succinate to succinyl-CoA synthetaseIdentification of a gene set to evaluate the potential effects of loud sounds from seismic surveys on the ears of fishes: a study with Salmo salar.Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders.Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.A multicenter study on Leigh syndrome: disease course and predictors of survival.Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkComplex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome.Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.Exclusive neuronal expression of SUCLA2 in the human brain.Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.The genetics of Leigh syndrome and its implications for clinical practice and risk managementInherited mitochondrial diseases of DNA replicationA novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa casesMitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.Mitochondrial disease in childhood: mtDNA encoded.SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.Molecular diagnostics and mitochondrial dysfunction: a future perspective.Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 MutationA short insertion mutation disrupts genesis of miR-16 and causes increased body weight in domesticated chicken.A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomaliesTwo transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterationsScreen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.Genetic and biologic classification of infantile spasms.Impaired TCA cycle flux in mitochondria in skeletal muscle from type 2 diabetic subjects: marker or maker of the diabetic phenotype?Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.Renal manifestations of genetic mitochondrial disease.Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.Leigh syndrome: One disorder, more than 75 monogenic causes.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Metabolic enzymes dysregulation in heart failure: the prospective therapy.Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.
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P2860
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Mitochondrial encephalomyopath ...... is caused by SUCLA2 mutations.
@en
Mitochondrial encephalomyopath ...... is caused by SUCLA2 mutations.
@nl
type
label
Mitochondrial encephalomyopath ...... is caused by SUCLA2 mutations.
@en
Mitochondrial encephalomyopath ...... is caused by SUCLA2 mutations.
@nl
prefLabel
Mitochondrial encephalomyopath ...... is caused by SUCLA2 mutations.
@en
Mitochondrial encephalomyopath ...... is caused by SUCLA2 mutations.
@nl
P2093
P2860
P356
P1433
P1476
Mitochondrial encephalomyopath ...... is caused by SUCLA2 mutations.
@en
P2093
Elsebet Ostergaard
Ernst Christensen
Flemming J Hansen
Flemming Wibrand
John Vissing
Marianne Schwartz
Morten Duno
Nicolina Sorensen
Oddmar Faeroe
Pernille L Larsen
P2860
P304
P356
10.1093/BRAIN/AWL383
P407
P577
2007-02-07T00:00:00Z