MOLECULAR DEFECTS IN CYTOCHROME-OXIDASE IN MITOCHONDRIAL DISEASES

[1] SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME [J]. NATURE, 1981, 290 (5806) : 457 - 465

[2] BACHMAN NJ, 1987, IN PRESS GENE, V55

[3] CONCEPTS OF ABSENCE EPILEPSIES - DISCRETE SYNDROMES OR BIOLOGICAL CONTINUUM [J]. NEUROLOGY, 1987, 37 (06) : 993 - 1000

[4] MITOCHONDRIAL CYTOCHROME DEFICIENCY PRESENTING AS A MYOPATHY WITH HYPOTONIA, EXTERNAL OPHTHALMOPLEGIA, AND LACTIC-ACIDOSIS IN AN INFANT AND AS FATAL HEPATOPATHY IN A 2ND COUSIN [J]. ANNALS OF NEUROLOGY, 1983, 14 (04) : 462 - 470

[5] FATAL INFANTILE CYTOCHROME-C OXIDASE DEFICIENCY - DECREASE OF IMMUNOLOGICALLY DETECTABLE ENZYME IN MUSCLE [J]. NEUROLOGY, 1985, 35 (06) : 802 - 812

[6] PARTIAL CYTOCHROME-OXIDASE (AA3) DEFICIENCY IN CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA - HISTOCHEMICAL AND BIOCHEMICAL-STUDIES [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1985, 71 (2-3) : 257 - 271

[7] STRUCTURE OF CYTOCHROME-C OXIDASE [J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 726 (02) : 135 - 148

[8] DEFICIENCY IN UBIQUINONE CYTOCHROME-C REDUCTASE IN A PATIENT WITH MITOCHONDRIAL MYOPATHY AND LACTIC-ACIDOSIS [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (16): : 5103 - 5106

[9] MITOCHONDRIAL MYOPATHIES [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 : 113 - 128

[10] FATAL INFANTILE MITOCHONDRIAL MYOPATHY AND RENAL DYSFUNCTION DUE TO CYTOCHROME-C-OXIDASE DEFICIENCY [J]. NEUROLOGY, 1980, 30 (08) : 795 - 804

[1] SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME [J]. NATURE, 1981, 290 (5806) : 457 - 465

[2] BACHMAN NJ, 1987, IN PRESS GENE, V55

[3] CONCEPTS OF ABSENCE EPILEPSIES - DISCRETE SYNDROMES OR BIOLOGICAL CONTINUUM [J]. NEUROLOGY, 1987, 37 (06) : 993 - 1000

[4] MITOCHONDRIAL CYTOCHROME DEFICIENCY PRESENTING AS A MYOPATHY WITH HYPOTONIA, EXTERNAL OPHTHALMOPLEGIA, AND LACTIC-ACIDOSIS IN AN INFANT AND AS FATAL HEPATOPATHY IN A 2ND COUSIN [J]. ANNALS OF NEUROLOGY, 1983, 14 (04) : 462 - 470

[5] FATAL INFANTILE CYTOCHROME-C OXIDASE DEFICIENCY - DECREASE OF IMMUNOLOGICALLY DETECTABLE ENZYME IN MUSCLE [J]. NEUROLOGY, 1985, 35 (06) : 802 - 812

[6] PARTIAL CYTOCHROME-OXIDASE (AA3) DEFICIENCY IN CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA - HISTOCHEMICAL AND BIOCHEMICAL-STUDIES [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1985, 71 (2-3) : 257 - 271

[7] STRUCTURE OF CYTOCHROME-C OXIDASE [J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 726 (02) : 135 - 148

[8] DEFICIENCY IN UBIQUINONE CYTOCHROME-C REDUCTASE IN A PATIENT WITH MITOCHONDRIAL MYOPATHY AND LACTIC-ACIDOSIS [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (16): : 5103 - 5106

[9] MITOCHONDRIAL MYOPATHIES [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 : 113 - 128

[10] FATAL INFANTILE MITOCHONDRIAL MYOPATHY AND RENAL DYSFUNCTION DUE TO CYTOCHROME-C-OXIDASE DEFICIENCY [J]. NEUROLOGY, 1980, 30 (08) : 795 - 804