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Article

A Rett syndrome MECP2 mutation that causes mental retardation in men.

Neurology - 22 Jan 2002

Dotti M T, Orrico A, De Stefano N, Battisti C, Sicurelli F, Severi S, Lam C W, Galli L, Sorrentino V, Federico A

Abstract excerpt

OBJECTIVE: To characterize the clinical features of a new type of X-linked mental retardation associated with MECP2 mutation in the index family. BACKGROUND: MECP2 mutations, originally described in a high percentage of patients with classic Rett syndrome, were considered lethal in men. The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental...

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Source

Identifiers

PMID: 11805248
DOI: 10.1212/wnl.58.2.226

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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