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Article

MECP2 mutation in a boy with severe apnea and sick sinus syndrome.

Brain & development - 1 Sept 2018

Shioda Tsutomu, Takahashi Satoru, Kaname Tadashi, Yamauchi Toyohiro, Fukuoka Tetsuya

Abstract excerpt

Rett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene, which encodes methyl-CpG-binding protein 2 (MECP2). It almost exclusively affects the female sex and is considered lethal in the male sex. However, an increasing number of male patients with MECP2 mutations have been reported, including patients who suddenly died of unknown causes. We report a case of MECP2 mutation in a male...

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Source

Identifiers

PMID: 29631775
DOI: 10.1016/j.braindev.2018.03.008

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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