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  • Title: NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
    Author: López-Gallardo E, Solano A, Herrero-Martín MD, Martínez-Romero I, Castaño-Pérez MD, Andreu AL, Herrera A, López-Pérez MJ, Ruiz-Pesini E, Montoya J.
    Journal: J Med Genet; 2009 Jan; 46(1):64-7. PubMed ID: 19124644.
    Abstract:
    BACKGROUND: Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome have been associated to m.8993T>G/C mutations in the subunit 6 of the ATP synthase (p.MT-ATP6). METHODS: We have performed a mutational screening of the mitochondrial DNA gene encoding for this protein in 62 patients with the disease, that do not carry any of the common mutations described to date. RESULTS: We report clinical and molecular data in one patient who harbours a de novo insertion in the MT-ATP6 gene that results in a truncated subunit. The mutation was heteroplasmic (85%) in muscle DNA and the BN-PAGE analysis showed a clear decrease in the amount of ATP synthase. CONCLUSION: Molecular analysis of NARP patients cannot be limited to the search of the m.8993T>G/C and either the ATP6 or the whole mtDNA should be sequenced.
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