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Ann Neurol. 2003 Oct;54(4):524-6.

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.

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  • 1Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA.


In 2002, paternal inheritance of muscle mitochondrial DNA (mtDNA) was reported in a patient with exercise intolerance and a mitochondrial DNA (mtDNA) mutation restricted to skeletal muscle. To evaluate whether paternal inheritance is a common phenomenon, we studied 10 sporadic patients with skeletal muscle-restricted mtDNA mutations: five harbored mtDNA point mutations in protein-coding genes and five had single mtDNA deletions. We performed haplotype analysis and direct sequencing of the hypervariable regions 1 and 2 of the D-loop in muscle and blood from the patients and, when available, in blood from their parents. We did not observe paternal inheritance in any of our patients.

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