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3. Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain. Kennaway NG; Buist NR; Darley-Usmar VM; Papadimitriou A; Dimauro S; Kelley RI; Capaldi RA; Blank NK; D'Agostino A Pediatr Res; 1984 Oct; 18(10):991-9. PubMed ID: 6093035 [TBL] [Abstract][Full Text] [Related]
4. Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. DiMauro S; Mendell JR; Sahenk Z; Bachman D; Scarpa A; Scofield RM; Reiner C Neurology; 1980 Aug; 30(8):795-804. PubMed ID: 6251406 [TBL] [Abstract][Full Text] [Related]
5. Progression from MERRF to MELAS phenotype in a patient with combined respiratory complex I and IV deficiencies. Byrne E; Trounce I; Dennett X; Gilligan B; Morley JB; Marzuki S J Neurol Sci; 1988 Dec; 88(1-3):327-37. PubMed ID: 2852217 [TBL] [Abstract][Full Text] [Related]
6. [A case of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) with progressive cytochrome c oxidase deficiency]. Sumi K; Nagaura T; Itagaki Y; Inui K; Abe J Rinsho Shinkeigaku; 1989 Jul; 29(7):901-8. PubMed ID: 2553313 [TBL] [Abstract][Full Text] [Related]
7. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Pavlakis SG; Phillips PC; DiMauro S; De Vivo DC; Rowland LP Ann Neurol; 1984 Oct; 16(4):481-8. PubMed ID: 6093682 [TBL] [Abstract][Full Text] [Related]
8. A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. Jackson CB; Bauer MF; Schaller A; Kotzaeridou U; Ferrarini A; Hahn D; Chehade H; Barbey F; Tran C; Gallati S; Haeberli A; Eggimann S; Bonafé L; Nuoffer JM Eur J Pediatr; 2016 Apr; 175(4):517-25. PubMed ID: 26563427 [TBL] [Abstract][Full Text] [Related]
10. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. Hoppel CL; Kerr DS; Dahms B; Roessmann U J Clin Invest; 1987 Jul; 80(1):71-7. PubMed ID: 3110216 [TBL] [Abstract][Full Text] [Related]
11. Biochemical studies in mitochondrial encephalomyopathy. Goda S; Ishimoto S; Goto I; Kuroiwa Y; Koike K; Koike M; Nakagawa M; Reichmann H; DiMauro S J Neurol Neurosurg Psychiatry; 1987 Oct; 50(10):1348-52. PubMed ID: 3681314 [TBL] [Abstract][Full Text] [Related]
12. Mitochondrial myopathy with lactic acidosis and deficient activity of muscle succinate cytochrome-c-oxidoreductase. Behbehani AW; Goebel H; Osse G; Gabriel M; Langenbeck U; Berden J; Berger R; Schutgens RB Eur J Pediatr; 1984 Nov; 143(1):67-71. PubMed ID: 6096151 [TBL] [Abstract][Full Text] [Related]
13. Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient. Zeviani M; Nonaka I; Bonilla E; Okino E; Moggio M; Jones S; DiMauro S Ann Neurol; 1985 Apr; 17(4):414-7. PubMed ID: 2988412 [TBL] [Abstract][Full Text] [Related]
15. Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. Figarella-Branger D; Pellissier JF; Scheiner C; Wernert F; Desnuelle C J Neurol Sci; 1992 Mar; 108(1):105-13. PubMed ID: 1320661 [TBL] [Abstract][Full Text] [Related]
16. Mitochondrial myopathy and cardiomyopathy in siblings. Tulinius MH; Eriksson BO; Hjalmarson O; Holme E; Oldfors A Pediatr Neurol; 1989; 5(3):182-8. PubMed ID: 2742628 [TBL] [Abstract][Full Text] [Related]
17. Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle. Müller-Höcker J; Pongratz D; Deufel T; Trijbels JM; Endres W; Hübner G Virchows Arch A Pathol Anat Histopathol; 1983; 399(1):11-23. PubMed ID: 6298999 [TBL] [Abstract][Full Text] [Related]
18. Mitochondrial myopathies. DiMauro S; Bonilla E; Zeviani M; Nakagawa M; DeVivo DC Ann Neurol; 1985 Jun; 17(6):521-38. PubMed ID: 3927817 [TBL] [Abstract][Full Text] [Related]
19. A mitochondrial myopathy in an infant with lactic acidosis. Griebel V; Krägeloh-Mann I; Ruitenbeek W; Trijbels JM; Paulus W Dev Med Child Neurol; 1990 Jun; 32(6):528-31. PubMed ID: 2365146 [TBL] [Abstract][Full Text] [Related]
20. [Myopathy with carnitine deficiency and lactic acidosis. A contribution to differential diagnosis of carnitine deficiency myopathies and mitochondrial myopathies]. Cammann R; Dunker H; Schumacher H; Ruitenbeek W; Sperner J Z Arztl Fortbild (Jena); 1992 Jul; 86(13):667-71. PubMed ID: 1642019 [No Abstract] [Full Text] [Related] [Next] [New Search]