Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

Neurology

Volumn 49, Issue 1, 1997, Pages 270-273

  Santorelli, Filippo M ^a   Tanji, Kurenai ^a   Shanske, Sara ^a   DiMauro, Salvatore ^a,b  

^a Columbia University ^*  (United States)

^b The New York Presbyterian Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MITOCHONDRIAL DNA;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; FEMALE; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

EID: 0030818636     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.1.270     Document Type: Article

References (14)

1. Dryja TP, Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet 1995;4:1739-1743.
2. Holt IJ, Harding AE, Petty RKH, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-433.
3. Tatuch Y, Christodoulou J, Feigenbaum A, et al. Heteroplasmic mtDNA mutation (T-to-G) at 8993 can cause Leigh's disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992;50:852-858.
4. Tatuch Y, Pagon RA, Vlcek B, Roberts R, Korson M, Robinson BH. The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families. Eur J Hum Genet 1994;2:35-43.
5. Fryer A, Appleton R, Sweeney MG, Rosenbloom L, Harding AE. Leigh syndrome presenting with a heterogeneous phenotype including cerebral palsy. Arch Dis Child 1994;71:419-422.
6. Zeviani M, Bertagnolio B, Uziel G. Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 1996;19:504-520.
7. Puddu P, Barboni P, Mantovani V, et al. Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family. Br J Ophthalmol 1993;77: 84-88.
8. DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase in Leigh syndrome. Ann Neurol 1987;22:498-506.
9. Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S. A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology 1994;44:972-974.
10. Kogelnik AM, Lott MT, Brown MD, Navathe SB, Wallace DC. MITOMAP: a human mitochondrial genome database. Nucleic Acids Res 1996;24:177-179.
11. Ortiz RG, Newman NJ, Shoffner JM, Kaufman AE, Koontz DA, Wallace DC. Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. Arch Ophthalmol 1993;111:1525-1530.
12. Kimberling WJ, Moller C. Clinical and molecular genetics of Usher syndrome. J Am Acad Audiol 1995;6:63-72.
13. Ciafaloni E, Santorelli FM, Shanske S, et al. Maternally inherited Leigh syndrome. J Pediatr 1993;122:419-422.
14. Tulinius MH, Houshmand M, Larsson NG, et al. De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring. Hum Genet 1995;96:290-294.