A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
GN Mnatzakanian, H Lohi, I Munteanu, SE Alfred… - Nature …, 2004 - nature.com
Nature genetics, 2004•nature.com
Rett syndrome is caused by mutations in the gene MECP2 in∼ 80% of affected individuals.
We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the
absence, until now, of identified mutations specific to the previously recognized protein
indicate an important role for the newly discovered molecule in the pathogenesis of Rett
syndrome.
We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the
absence, until now, of identified mutations specific to the previously recognized protein
indicate an important role for the newly discovered molecule in the pathogenesis of Rett
syndrome.
Abstract
Rett syndrome is caused by mutations in the gene MECP2 in ∼80% of affected individuals. We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome.
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