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Article

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

Neurology - 12 Sept 2006

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

Abstract excerpt

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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Source

Identifiers

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

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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