Table 1 Mtdna nonsense mutations associated with human mitochondrial encephalomyopathies. Gene Mutation Disease References nd2



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Table 1 MtDNA nonsense mutations associated with human mitochondrial encephalomyopathies.

Gene

Mutation

Disease

References


ND2

COX I
COX III

ND4

Cytb


G4810A

G5920A


G6930A

G9952A


G11832A

G15059A


G15084A

G15168A


G15723A

G15242A


C15800T

G15761A


G15170A

Exercise intolerance

Exercise intolerance/myoglobinuria

Myopathy/Epilepsy

Exercise intolerance/Encephalopathy

Exercise intolerance

Exercise intolerance/myoglobinuria

Exercise intolerance

Exercise intolerance

Exercise intolerance

Exercise intolerance

Exercise intolerance

Exercise intolerance

Exercise intolerance


This report

Karadimas et al., 20003

Bruno et al., 19994

Hanna et al., 19982

Andreu et al., 1999a5

Andreu et al., 1999b6

Andreu et al., 1999c1

Keightley et al., 20007

Lamantea et al., 20028

Mancuso et al., 20039

Bruno et al., 200310

Abbreviations as follow: ND = NADH-dehydrogenase, COX = cytochrome C oxidase, cytb = cytochrome b

1. Andreu AL, Hanna MG, Reichmann H, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 1999;341:1037-1044.

2. Hanna MG, Nelson IP, Rahman S, et al. Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. Am J Hum Genet 1998;63:29-36.

3. Karadimas CL, Greenstein P, Sue CM, et al. Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. Neurology 2000;55:644-649.

4. Bruno C, Martinuzzi A, Tang Y, et al. (1999) "A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV". American Journal of Human Genetics. 65 (3): 611-620

5. Andreu AL, Tanji K, Bruno C, et al. Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene. Ann Neurol 1999;45:820-823.

6. Andreu AL, Bruno C, et al. A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria. Ann Neurol 1999;45:127-130.

7. Keightley JA, Anitori R, Burton MD, Quan F, Buist NR, Kennaway NG Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet 2000;67:1400-1410.

8. Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V, Zeviani M. A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscul Disord 2002;12: 49-52.



9. Mancuso M, Filosto M, Stevens JC, et al. Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene. J Neurol Sci 2003;209: 61-63.

10. Bruno C, Santorelli FM, Assereto S, et al. Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene. Muscle Nerve 2003;28: 508-511.


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