A novel familial MECP2 mutation in a young boy: Clinical and molecular findings

P. Ventura; R. Galluzzi; S. M. Bacca; R. Giorda; A. Massagli

doi:10.1212/01.wnl.0000233990.87889.15

A novel familial MECP2 mutation in a young boy: Clinical and molecular findings

P. Ventura, R. Galluzzi, S. M. Bacca, R. Giorda, A. Massagli

Istituto "Eugenio Medea" - Associazione La Nostra Famiglia

Research output: Contribution to journal › Article › peer-review

Abstract

We describe the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy. His mother is heterozygous for the same mutation.

Original language	English
Pages (from-to)	867-868
Number of pages	2
Journal	Neurology
Volume	67
Issue number	5
DOIs	https://doi.org/10.1212/01.wnl.0000233990.87889.15
Publication status	Published - Sep 2006

ASJC Scopus subject areas

Neuroscience(all)

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abstract = "We describe the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy. His mother is heterozygous for the same mutation.",

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