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

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

Research output: Contribution to journalArticlepeer-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 languageEnglish
Pages (from-to)867-868
Number of pages2
JournalNeurology
Volume67
Issue number5
DOIs
Publication statusPublished - Sep 2006

ASJC Scopus subject areas

  • Neuroscience(all)

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