A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa — The NARP syndrome
Author:
Funder
Toyota Fond, Denmark
Publisher
Elsevier BV
Subject
Genetics,General Medicine
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2. Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene;Childs;Neuropediatrics,2007
3. Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells;D'Aurelio;Hum. Mol. Genet.,2010
4. Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation;Debray;Am. J. Med. Genet. A,2007
5. Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load;Enns;Mol. Genet. Metab.,2006
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