Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.

Author:

Fryer A,Appleton R,Sweeney M G,Rosenbloom L,Harding A E

Publisher

BMJ

Subject

Pediatrics, Perinatology and Child Health

Reference10 articles.

1. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy;Holt, I.J.; Harding, A.E.; Petty, R.K.H.; Morgan-Hughes, J.A.;Am Hum Genet,1990

2. Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high;Tatuch, Y.; Christodoulou, J.; Feigenbaum, A.;Am Hum Genet,1992

3. Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation;Shoffner, J.M.; Fernhoff, P.M.; Krawiecki, N.S.;Neurology,1992

4. Four families with variable presentation of the 8993 mtDNA mutation within the ATPase 6 gene;Robinson, B.H.; Tatuch, Y.M.;Am Y Hum Genet,1992

5. Maternally inherited Leigh's syndrome;Ciafaloni, E.; Santorelli, F.M.; Shanske, S.;Pediatr,1993

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