title: Familial mitochondrial myopathy associated with peripheral neuropathy: partial deficiencies of complex I and complex IV.
abstract: Two brothers, 46 and 48 years old, presented with optic atrophy and blepharoptosis since childhood, and later developed muscle wasting and weakness of the extremities, and glove and stocking type sensory impairment. Biopsies of muscles and sural nerves clearly showed mitochondrial myopathy with many ragged-red fibers and peripheral neuropathy with onion-bulb formation. Biochemical studies of muscles disclosed partial deficiencies of complexes I and IV of the mitochondrial respiratory chain in both cases. Since the parents were first cousins, this mitochondrial disorder seemed to be transmitted as an autosomal recessive trait.
authors.affiliation: Department of Neurology, University of Tsukuba, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Mizusawa
authors.forename: M
authors.initials: M
authors.lastname: Watanabe
authors.forename: I
authors.initials: I
authors.lastname: Kanazawa
authors.forename: T
authors.initials: T
authors.lastname: Nakanishi
authors.forename: M
authors.initials: M
authors.lastname: Kobayashi
authors.forename: M
authors.initials: M
authors.lastname: Tanaka
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
authors.forename: M
authors.initials: M
authors.lastname: Nishikimi
authors.forename: T
authors.initials: T
authors.lastname: Ozawa
mesh_terms: D030401:Cytochrome-c Oxidase Deficiency; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology* / Q000648:ultrastructure; D009046:Motor Neurons / Q000502:physiology; D016660:NAD(P)H Dehydrogenase (Quinone); D009431:Neural Conduction; D009468:Neuromuscular Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009475:Neurons, Afferent / Q000502:physiology; D010101:Oxygen Consumption; D010375:Pedigree; D011808:Quinone Reductases / Q000172:deficiency*
chemical_list: D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases