[Rett syndrome: correlation of clinical symptoms and the mutations in the gene of methyl CPG binding protein 2 (MeCP2): introductory remarks].

Abstract excerpt

Pathophysiology of Rett syndrome is discussed in relation to the MeCP2 gene. The brainstem aminergic neurons are affected in early infancy, resulting in failure in locomotion, head growth and language. The severity of symptoms is related to the specific loci of a mutation on the methylbinding domain which shows correlation with the degree of heterochronation disturbance. The secondary involvement of dopamine...

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