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See Latest Articles15q11.2-13 Duplication, Mitochondrial Dysfunction, and Developmental Disorders
Journal of Child Neurology, 06/18/09
Frye RE - It is proposed that interactions of the duplicated SNRPN gene with nuclear respiratory factor 1 could result in destabilization of mitochondrial complex formation and activation of apoptosis under metabolic stress, resulting in the pattern of abnormalities found in the current and previously reported cases. In light of the frequency of this duplication in children with developmental dishabilles, the wider implication of the association between this duplication and mitochondrial dysfunction needs to be considered.
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