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Article

[Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities].

No to hattatsu = Brain and development - 1 Jan 2005

Miura Kiyokuni, Kumagai Toshiyuki, Suzuki Yoshiko, Ohki Takashi, Matsumoto Akiko, Miyazaki Shuji, Hayakawa Chiemi, Sonta Shin-ichi, Yamada Yasukazu, Wakamatsu Nobuaki

Abstract excerpt

Mutations in a gene on the X-chromosome encoding methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome. We examined clinical symptoms of 27 patients with Rett syndrome (aged 2 to 37 years), diagnosed by the criteria of the Rett Syndrome Diagnostic Criteria Work Group. having MECP2 gene mutations. Two novel MECP2 mutations, 119 del AG resulting in amino acid frame-shift 40fs43X and C to G transversion resulting...

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Source

Identifiers

PMID: 15675358

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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