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Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.
Cormier V, Rotig A, Tardieu M, Colonna M, Saudubray JM, Munnich A. Cormier V, et al. Am J Hum Genet. 1991 Apr;48(4):643-8. Am J Hum Genet. 1991. PMID: 2014791 Free PMC article.
Multiple deletions of the mitochondrial genome were found in a family in which the proband had ataxia and ketoacidotic comas. ...Therefore, the deletions appear not to be transmitted per se but to be inherited in a Mendelian manner, being possibly dominant. ...
Multiple deletions of the mitochondrial genome were found in a family in which the proband had ataxia and ketoacidotic comas. ...Ther …
Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.
Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P. Bourgeron T, et al. Biochem Biophys Res Commun. 1992 Jul 15;186(1):16-23. doi: 10.1016/s0006-291x(05)80769-7. Biochem Biophys Res Commun. 1992. PMID: 1321601
The increase of cytochrome c oxidase activity in the mitochondrial fraction indicated a 6-fold purification of intact mitochondria. ...Furthermore, the isolated mitochondria supported an active in organello protein synthesis, which was dependent on the presence of a
The increase of cytochrome c oxidase activity in the mitochondrial fraction indicated a 6-fold purification of intact mitochondria. . …
Clinical aspects of mitochondrial disorders.
Munnich A, Rustin P, Rötig A, Chretien D, Bonnefont JP, Nuttin C, Cormier V, Vassault A, Parvy P, Bardet J, et al. Munnich A, et al. J Inherit Metab Dis. 1992;15(4):448-55. doi: 10.1007/BF01799603. J Inherit Metab Dis. 1992. PMID: 1528005
In fact, owing to the ubiquitous nature of the oxidative phosphorylation, a broad spectrum of clinical features should be expected in mitochondrial disorders. ...Consequently, we suggest giving consideration to the diagnosis of a mitochondrial disorder when dealing …
In fact, owing to the ubiquitous nature of the oxidative phosphorylation, a broad spectrum of clinical features should be expected in …
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.
Rötig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A. Rötig A, et al. Am J Hum Genet. 1992 Feb;50(2):364-70. Am J Hum Genet. 1992. PMID: 1531167 Free PMC article.
Two sisters in the first year of life presented with a proximal tubulopathy of unknown etiology. They subsequently developed a pluritissular disorder including diabetes mellitus, skin abnormalities, mitochondrial myopathy with ragged-red fibers, and cerebellar ataxi …
Two sisters in the first year of life presented with a proximal tubulopathy of unknown etiology. They subsequently developed a
[Metabolic, enzymological and molecular assessment of mitochondrial cytopathies].
Munnich A, Rotig A. Munnich A, et al. Pediatrie. 1991;46(6-7):509-14. Pediatrie. 1991. PMID: 1664083 French.
A disorder of the respiratory chain results in a dramatic increase of reducing equivalents both in the mitochondria and cytoplasm. ...The observation of an abnormal oxidoreduction status in patients with Pearson marrow-pancreas syndrome led us to identify this disea
A disorder of the respiratory chain results in a dramatic increase of reducing equivalents both in the mitochondria and cytopl
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.
Rötig A, Cormier V, Koll F, Mize CE, Saudubray JM, Veerman A, Pearson HA, Munnich A. Rötig A, et al. Genomics. 1991 Jun;10(2):502-4. doi: 10.1016/0888-7543(91)90342-c. Genomics. 1991. PMID: 1712754
The Pearson marrow-pancreas syndrome is a fatal disorder involving the hematopoietic system and the exocrine pancreas in early infancy. ...These results are consistent either with the recognition and cleavage of a particular DNA sequence with a factor of stil …
The Pearson marrow-pancreas syndrome is a fatal disorder involving the hematopoietic system and the exocrine pancreas in early infanc …
[Pearson's syndrome. Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first childhood].
Cormier V, Rötig A, Bonnefont JP, Mechinand F, Berthou C, Goulet O, Schmitz J, Blanche S, Vassaut A, Maier M, et al. Cormier V, et al. Arch Fr Pediatr. 1991 Mar;48(3):171-8. Arch Fr Pediatr. 1991. PMID: 2048956 French.
Pearson's syndrome is a lethal disorder of a still unknown cause, responsible for pancytopenia and exocrine pancreatic dysfunction in the first months of life. ...Thus, Pearson's syndrome is the first mitochondriopathy with a non neuromuscular expression repo …
Pearson's syndrome is a lethal disorder of a still unknown cause, responsible for pancytopenia and exocrine pancreatic dysfunc …
mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy.
Cormier V, Rötig A, Geny C, Cesaro P, Dufier JL, Munnich A. Cormier V, et al. Am J Hum Genet. 1991 Apr;48(4):813-4. Am J Hum Genet. 1991. PMID: 2064658 Free PMC article. No abstract available.
Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.
Cormier V, Rötig A, Quartino AR, Forni GL, Cerone R, Maier M, Saudubray JM, Munnich A. Cormier V, et al. J Pediatr. 1990 Oct;117(4):599-602. doi: 10.1016/s0022-3476(05)80698-5. J Pediatr. 1990. PMID: 2213388 No abstract available.
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