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JIMD Reports, p. 47-50

DOI: 10.1007/8904_2012_159

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Inheritance of the m.3243A>G mutation

Journal article published in 2012 by P. de Laat, Paul de Laat, Saskia Koene, L. P. W. J. van den Heuvel, Richard J. T. Rodenburg ORCID, Mirian C. H. Janssen, Jan A. M. Smeitink
This paper is available in a repository.
This paper is available in a repository.

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Abstract

The m.3243A>G is the most prevalent pathogenic mtDNA mutation but little is known about its inheritance. We studied 34 families containing 56 mother-child relations and 82 intersibling relations to investigate its transmission. We found a significant correlation between mother and child heteroplasmy levels (r = 0.679, p G mutation. Heteroplasmy levels between siblings also correlated (r = 0.512, p G mutation might be of value in counseling patients and preventing transmission of the mutation.