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Biochem Biophys Res Commun. 1997 Sep 18;238(2):323-5.

Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.

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Centro de Investigación, Hospital Universitario "12 de Octubre,", Madrid, Spain.


We found a novel maternally inherited T3308C mutation in the mtDNA ND1 gene in a patient with bilateral striatal necrosis and stroke-like episodes. Muscle biopsy from the proband showed mitochondrial proliferation in blood vessels and normal respiratory chain activities. The mutation, which was not present in 100 normal controls or in 30 patients with mitochondrial disease, was heteroplasmic in both muscle and blood of the proband and in blood from her asymptomatic mother. This mutation results in a Met --> Thr change at the highly conserved amino acid position 1. The T3308C mutation may alter the hydrophobicity and antigenicity of the N-terminal peptide of ND1.

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