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Mitochondrial encephalomyopathies. 1989

S DiMauro, and M Zeviani, and C T Moraes, and H Nakase, and R Rizzuto, and A Lombes, and S Shanske, and E A Schon
Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032.

UI MeSH Term Description Entries
D007888 Leigh Disease A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850). Encephalomyelitis, Subacute Necrotizing,Encephalopathy, Subacute Necrotizing,Encephalomyelopathy, Subacute Necrotizing,Encephalopathy, Subacute Necrotizing, Infantile,Encephalopathy, Subacute Necrotizing, Juvenile,Infantile Leigh Disease,Infantile Subacute Necrotizing Encephalopathy,Juvenile Leigh Disease,Juvenile Subacute Necrotizing Encephalopathy,Leigh Disease, Infantile,Leigh Disease, Juvenile,Leigh Syndrome,Leigh's Disease,Subacute Necrotizing Encephalomyelitis, Infantile,Subacute Necrotizing Encephalomyelopathy,Subacute Necrotizing Encephalopathy,Subacute Necrotizing Encephalopathy, Infantile,Subacute Necrotizing Encephalopathy, Juvenile,Disease, Leigh's,Encephalomyelitides, Subacute Necrotizing,Encephalomyelopathies, Subacute Necrotizing,Encephalopathies, Subacute Necrotizing,Leighs Disease,Necrotizing Encephalomyelitides, Subacute,Necrotizing Encephalomyelitis, Subacute,Necrotizing Encephalomyelopathies, Subacute,Necrotizing Encephalomyelopathy, Subacute,Necrotizing Encephalopathies, Subacute,Necrotizing Encephalopathy, Subacute,Subacute Necrotizing Encephalomyelitides,Subacute Necrotizing Encephalomyelitis,Subacute Necrotizing Encephalomyelopathies,Subacute Necrotizing Encephalopathies
D008297 Male Males
D008931 Mitochondria, Muscle Mitochondria of skeletal and smooth muscle. It does not include myocardial mitochondria for which MITOCHONDRIA, HEART is available. Sarcosomes,Mitochondrion, Muscle,Muscle Mitochondria,Muscle Mitochondrion,Sarcosome
D009468 Neuromuscular Diseases A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA. Amyotonia Congenita,Oppenheim Disease,Cramp-Fasciculation Syndrome,Fasciculation-Cramp Syndrome, Benign,Foley-Denny-Brown Syndrome,Oppenheim's Disease,Benign Fasciculation-Cramp Syndrome,Benign Fasciculation-Cramp Syndromes,Cramp Fasciculation Syndrome,Cramp-Fasciculation Syndromes,Fasciculation Cramp Syndrome, Benign,Fasciculation-Cramp Syndromes, Benign,Foley Denny Brown Syndrome,Neuromuscular Disease,Oppenheims Disease,Syndrome, Cramp-Fasciculation,Syndrome, Foley-Denny-Brown,Syndromes, Cramp-Fasciculation
D002493 Central Nervous System Diseases Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord. CNS Disease,Central Nervous System Disease,Central Nervous System Disorder,CNS Diseases,Central Nervous System Disorders
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D003576 Electron Transport Complex IV A multisubunit enzyme complex containing CYTOCHROME A GROUP; CYTOCHROME A3; two copper atoms; and 13 different protein subunits. It is the terminal oxidase complex of the RESPIRATORY CHAIN and collects electrons that are transferred from the reduced CYTOCHROME C GROUP and donates them to molecular OXYGEN, which is then reduced to water. The redox reaction is simultaneously coupled to the transport of PROTONS across the inner mitochondrial membrane. Cytochrome Oxidase,Cytochrome aa3,Cytochrome-c Oxidase,Cytochrome Oxidase Subunit III,Cytochrome a,a3,Cytochrome c Oxidase Subunit VIa,Cytochrome-c Oxidase (Complex IV),Cytochrome-c Oxidase Subunit III,Cytochrome-c Oxidase Subunit IV,Ferrocytochrome c Oxygen Oxidoreductase,Heme aa3 Cytochrome Oxidase,Pre-CTOX p25,Signal Peptide p25-Subunit IV Cytochrome Oxidase,Subunit III, Cytochrome Oxidase,p25 Presequence Peptide-Cytochrome Oxidase,Cytochrome c Oxidase,Cytochrome c Oxidase Subunit III,Cytochrome c Oxidase Subunit IV,Oxidase, Cytochrome,Oxidase, Cytochrome-c,Signal Peptide p25 Subunit IV Cytochrome Oxidase,p25 Presequence Peptide Cytochrome Oxidase
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

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