We report a family with a novel maternally inherited homoplasmic mtDNA m.
DNA from blood in seven family members and muscle from four family members were PCR amplified and sequenced directly and assessed for the m. Mitochondrial enzyme activity in all muscle biopsies was measured. PCR and direct sequencing of the MT-ND1 genes from blood showed that all seven family members were homoplasmic for the m.
The mutation predicts a threonine to alanine substitution at position p. Most likely in our patient, although severely reduced, SLC25A4 is still partially present and functional.
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AB - In a year-old male with a mild mitochondrial myopathy manifesting as exercise intolerance and early signs of cardiomyopathy without muscle weakness or ophthalmoplegia, we identified two novel mutations in the SLC25A4 gene: c. UM postal address P.
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