Literature DB >> 16966553

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

P Ventura1, R Galluzzi, S M Bacca, R Giorda, A Massagli.   

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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Year:  2006        PMID： 16966553     DOI： 10.1212/01.wnl.0000233990.87889.15

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  2 in total

Review 1.  MECP2 mutations in males.

Authors:  Laurent Villard
Journal:  J Med Genet       Date:  2007-03-09       Impact factor: 6.318

Review 2.  Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

Authors:  Kirstine Ravn; Gitte Roende; Morten Duno; Kathrine Fuglsang; Kristin L Eiklid; Zeynep Tümer; Jytte B Nielsen; Ola H Skjeldal
Journal:  Orphanet J Rare Dis       Date:  2011-08-30       Impact factor: 4.123
  2 in total

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