Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies - PubMed

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• PMID: 14520667
• DOI: 10.1002/ana.10709

Comparative Study

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

Massimiliano Filosto et al. Ann Neurol. 2003 Oct.

Abstract

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.

Comment in

• Paternal transmission of mitochondrial DNA is (fortunately) rare.

  Johns DR. Johns DR. Ann Neurol. 2003 Oct;54(4):422-4. doi: 10.1002/ana.10771. Ann Neurol. 2003. PMID: 14520651 No abstract available.

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