Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes.

[1]  B. J. Alpers DIFFUSE PROGRESSIVE DEGENERATION OF THE GRAY MATTER OF THE CEREBRUM , 1931 .

[2]  D. Leigh SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT , 1951, Journal of neurology, neurosurgery, and psychiatry.

[3]  F. Hommes,et al.  Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. , 1968, Archives of disease in childhood.

[4]  W. Engel,et al.  Oculocraniosomatic Neuromuscular Disease With Ragged-Red Fibers: Histochemical and Ultrastructural Changes in Limb Muscles of a Group of Patients With Idiopathic Progressive External Ophthalmoplegia , 1972 .

[5]  J. T. Black,et al.  Ragged-red fibers A biochemical and morphological study , 1975, Journal of the Neurological Sciences.

[6]  K. Dam,et al.  Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. , 1977, Pediatrics.

[7]  S. Dimauro,et al.  Lumping or splitting? “ophthalmoplegia‐plus” or kearns‐sayre syndrome? , 1977, Annals of neurology.

[8]  S. Dimauro,et al.  Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. , 1980, Neurology.

[9]  T. Tsubaki,et al.  Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome? Light- and electron-microscopic studies of two cases and review of literature , 1980, Journal of the Neurological Sciences.

[10]  F. Gabreëls,et al.  Pyruvate dehydrogenase deficiency restricted to brain , 1981, Neurology.

[11]  J. Egger,et al.  Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy. , 1981, Archives of disease in childhood.

[12]  Dj Hayes,et al.  Mitochondria and Muscular Diseases , 1982 .

[13]  F. Gabreëls,et al.  Progressive infantile poliodystrophy (Alpers' disease) with a defect in citric acid cycle activity in liver and fibroblasts. , 1982, Neuropediatrics.

[14]  D. J. Hayes,et al.  Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain. , 1982, Brain : a journal of neurology.

[15]  S. Dimauro,et al.  Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency , 1983, Annals of neurology.

[16]  F. Gabreëls,et al.  Progressive poliodystrophy (alpers') disease) with a defect in cytochromeaa3 in muscle: a report of two unrelated patients , 1983, Clinical Neurology and Neurosurgery.

[17]  S. Dimauro,et al.  Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome , 1984, Annals of neurology.

[18]  R. Sengers,et al.  Mitochondrial myopathies. Clinical, morphological and biochemical aspects. , 1984, European journal of pediatrics.

[19]  F. Gabreëls,et al.  Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2‐oxoglutarate in muscle and liver , 1985, Acta neurologica Scandinavica.

[20]  F. Gabreëls,et al.  Disturbed oxidative metabolism in subacute necrotizing encephalomyelopathy (Leigh syndrome). , 1986, Neuropediatrics.

[21]  B. Harding,et al.  Progressive neuronal degeneration of childhood with liver disease. A pathological study. , 1986, Brain : a journal of neurology.

[22]  G. Pampiglione,et al.  Progressive Neuronal Degeneration of Childhood with Liver Disease("Alpers' Disease"): Characteristic Neurophysiological Features , 1986, Neuropediatrics.

[23]  A. Harding,et al.  The clinical features of mitochondrial myopathy. , 1986, Brain : a journal of neurology.

[24]  J. Martín,et al.  Benign mitochondrial myopathy with deficiency of NADH-CoQ reductase and cytochrome c oxidase. , 1986, Neuropediatrics.

[25]  S. Dimauro,et al.  Cytochrome c oxidase deficiency in leigh syndrome , 1987, Annals of neurology.

[26]  F. Gabreëls,et al.  Mitochondrial Encephalomyopathy: Association With an NADH Dehydrogenase Deficiency , 1987 .

[27]  S. Packman,et al.  Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). , 1987, Pediatrics.

[28]  Y. Wada,et al.  Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome. , 1987, The Journal of pediatrics.

[29]  H. Scholte The biochemical basis of mitochondrial diseases , 1988, Journal of bioenergetics and biomembranes.

[30]  S. Dimauro,et al.  Deletions of mitochondrial DNA in Kearns‐Sayre syndrome , 1988, Neurology.

[31]  C. Epstein,et al.  Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease , 1988, Cell.

[32]  I. Nonaka,et al.  Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency , 1988, Annals of neurology.

[33]  S. Dimauro,et al.  Biochemical and molecular aspects of cytochrome C oxidase deficiency. , 1988, Advances in neurology.

[34]  Hiroshi Suzuki,et al.  Disproportionate Deficiency of Iron-Sulfur Clusters and Subunits of Complex I in Mitochondrial Encephalomyopathy , 1989, Pediatric Research.

[35]  S. Dimauro,et al.  An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region , 1989, Nature.

[36]  S. Dimauro,et al.  Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. , 1989, The New England journal of medicine.

[37]  J. Cooper,et al.  Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA , 1989, Annals of neurology.

[38]  E. Holme,et al.  Mitochondrial myopathy and cardiomyopathy in siblings. , 1989, Pediatric neurology.

[39]  I. Nonaka,et al.  A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies , 1990, Nature.

[40]  M. Savontaus,et al.  Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy. , 1990, American journal of human genetics.

[41]  M. Ito,et al.  Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome. , 1990, The Journal of pediatrics.

[42]  E. Holme,et al.  Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome , 1990, Pediatric Research.

[43]  F. Ledeist,et al.  Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. , 1990, The Journal of clinical investigation.

[44]  D. Wallace,et al.  Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation , 1990, Cell.

[45]  K. Ohno,et al.  Mitochondrial mutation in fatal infantile cardiomyopathy , 1990, The Lancet.

[46]  F. Berenbaum,et al.  Kearns‐Sayre syndrome , 1990, Neurology.

[47]  D. Wallace,et al.  Oxidative Phosphorylation Diseases , 1990 .

[48]  A. Munnich,et al.  A Multisystem Mitochondrial Disorder in Infancy , 1990 .

[49]  S. Dimauro,et al.  Cytochrome c Oxidase Deficiency , 1990, Pediatric Research.

[50]  E. Holme,et al.  Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations. , 1991, The Journal of pediatrics.

[51]  K. Narisawa,et al.  Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy , 1985, European Journal of Pediatrics.

[52]  Y. Wada,et al.  Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome and NADH-CoQ reductase deficiency , 1986, Journal of Inherited Metabolic Disease.