RT Journal Article
SR Electronic
T1 A novel familial <em>MECP2</em> mutation in a young boy: Clinical and molecular findings
JF Neurology
JO Neurology
FD Lippincott Williams &amp; Wilkins
SP 867
OP 868
DO 10.1212/01.wnl.0000233990.87889.15
VO 67
IS 5
A1 Ventura, P.
A1 Galluzzi, R.
A1 Bacca, S. M.
A1 Giorda, R.
A1 Massagli, A.
YR 2006
UL http://n.neurology.org/content/67/5/867.abstract
AB We describe the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C&gt;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.