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Annals of Neurology, ISSN 0364-5134, 2017, Volume 82, Issue 6, pp. 1004 - 1015
Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants... 
ENCEPHALOPATHY | MEGDEL SYNDROME | MANAGEMENT | GENE | BIOSYNTHESIS | PHENOTYPE | MITOCHONDRIAL DYSFUNCTION | PHOSPHOLIPIDS | 3-METHYLGLUTACONIC ACIDURIA | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | Dystonia - therapy | Humans | Child, Preschool | Infant | Male | Intellectual Disability - genetics | Dystonia - genetics | Young Adult | Adult | Female | Carboxylic Ester Hydrolases - genetics | Deaf-Blind Disorders - therapy | Child | Infant, Newborn | Optic Atrophy - genetics | Amino Acid Sequence | Intellectual Disability - diagnostic imaging | Deaf-Blind Disorders - diagnostic imaging | Mutation - genetics | Disease Progression | Intellectual Disability - therapy | Optic Atrophy - therapy | Adolescent | Deaf-Blind Disorders - genetics | Dystonia - diagnostic imaging | Optic Atrophy - diagnostic imaging | Cohort Studies | Neonates | Cochlear implants | Deafness | Basal ganglia | Liver diseases | Liver | Aciduria | Spasticity | Hypoglycemia | Ganglia | Hearing loss | Hypotonia | Magnetic resonance imaging | Encephalopathy | Implants | Cochlea | Hearing aids | Leigh-like syndrome | Dystonia | Mutation | Auditory defects | Saliva | Age | lactic acid | epilepsy | 3 methylglutaconic aciduria dystonia deafness hepatopathy encephalopathy Leigh like syndrome | basal ganglion | nuclear magnetic resonance imaging | Carboxylic Ester Hydrolases | major clinical study | hearing impairment | young adult | infant | muscle biopsy | aciduria | dyskinesia | 3 methylglutaconic acid | liver failure | putamen | lactate blood level | Optic Atrophy | female | optic nerve atrophy | tongue disease | clinical trial | Neurologi | neuroradiology | liver disease | gene | preschool child | survival | diagnostic imaging | intelligence | neuroimaging | Neurology | mutation | speech development | adolescent | multicenter study | perception deafness | adult | serac1 gene | Deaf-Blind Disorders | male | child | deafblindness | Leigh disease | cohort analysis | Article | hypersalivation | communication skill | SERAC1 protein | genetics | amino acid sequence | walking | hypoglycemia | visual impairment | priority journal | human | Intellectual Disability | phenotype | disease exacerbation | differential diagnosis | human tissue | disease course | gene mutation | carboxylesterase | lactic acidosis | Preschool | brain disease | newborn | intellectual impairment | muscle hypotonia | prognosis | clinical feature | genetic variability | liver dysfunction | dystonia | newborn disease | spasticity | incidence
Journal Article
Journal Article
JIMD Reports, ISSN 2192-8312, 09/2019, Volume 49, Issue 1, pp. 11 - 16
In the era of genomics, the number of genes linked to mitochondrial disease has been quickly growing, producing massive knowledge on mitochondrial... 
3‐methylglutaconic aciduria | ISD11 | LYRM4 | Fe‐S clusters | mitochondrial disorder
Journal Article
Journal Article
Journal Article
Acta Neurologica Scandinavica, ISSN 0001-6314, 10/1983, Volume 68, Issue 4, pp. 231 - 240
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 04/1994, Volume 50, Issue 3, pp. 255 - 264
Journal Article
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2006, Volume 43, Issue 5, pp. 385 - 393
Background: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite... 
TRANSLOCASE | COCHAPERONE | MCJ GENE | GENETICS & HEREDITY | MENTAL DEFICIENCY | 3-METHYLGLUTACONIC ACIDURIA | OVARIAN-CANCER | TIM23 | DYSTONIA | IDENTIFICATION | PROTEIN IMPORT MOTOR | Genetic Testing | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Mitochondrial Proteins - genetics | Mitochondrial Membrane Transport Proteins | Membrane Transport Proteins - genetics | Mitochondrial Proteins - metabolism | Adult | Cardiomyopathy, Dilated - diagnosis | Female | Membrane Transport Proteins - metabolism | Ataxia - genetics | Child | Abnormalities, Multiple - genetics | Microsatellite Repeats | Cardiomyopathy, Dilated - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Canada - ethnology | Chromosome Mapping | Ataxia - diagnosis | Syndrome | Membrane Transport Proteins - chemistry | Sequence Alignment | Pedigree | Abnormalities, Multiple - diagnosis | Adolescent | Mitochondrial Proteins - chemistry | Consanguinity | Genome, Human | Causes of | Ataxia | Genetic aspects | Research | Gene mutations | Cardiomyopathy, Dilated | Haplotypes | Medical research | Yeast | Cardiomyopathy | Intellectual disabilities | Genes | Genomes | Data bases | Defects | Proteins | Hospitals | Rodents | Phenols | Population | Mutation | Genetic testing | Deoxyribonucleic acid--DNA | 3‐methylglutaconic aciduria | Original | mitochondrial protein import | dilated cardiomyopathy
Journal Article