PT  - JOURNAL ARTICLE
AU  - Ventura, P.
AU  - Galluzzi, R.
AU  - Bacca, S. M.
AU  - Giorda, R.
AU  - Massagli, A.
TI  - A novel familial <em>MECP2</em> mutation in a young boy: Clinical and molecular findings
AID  - 10.1212/01.wnl.0000233990.87889.15
DP  - 2006 Sep 12
TA  - Neurology
PG  - 867--868
VI  - 67
IP  - 5
4099  - http://n.neurology.org/content/67/5/867.short
4100  - http://n.neurology.org/content/67/5/867.full
SO  - Neurology2006 Sep 12; 67
AB  - 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.