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)

Access to Document

10.1212/01.wnl.0000233990.87889.15

Cite this

@article{30a97f187f8649e4bd0ad22b40a4ce07,

title = "A novel familial MECP2 mutation in a young boy: Clinical and molecular findings",

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.",

author = "P. Ventura and R. Galluzzi and Bacca, {S. M.} and R. Giorda and A. Massagli",

year = "2006",

month = sep,

doi = "10.1212/01.wnl.0000233990.87889.15",

language = "English",

volume = "67",

pages = "867--868",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "5",

}

TY - JOUR

T1 - A novel familial MECP2 mutation in a young boy

T2 - Clinical and molecular findings

AU - Ventura, P.

AU - Galluzzi, R.

AU - Bacca, S. M.

AU - Giorda, R.

AU - Massagli, A.

PY - 2006/9

Y1 - 2006/9

N2 - 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.

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.

UR - http://www.scopus.com/inward/record.url?scp=33748676885&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748676885&partnerID=8YFLogxK

U2 - 10.1212/01.wnl.0000233990.87889.15

DO - 10.1212/01.wnl.0000233990.87889.15

M3 - Article

C2 - 16966553

AN - SCOPUS:33748676885

VL - 67

SP - 867

EP - 868

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 5

ER -

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

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this