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Article

Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation.

Journal of the neurological sciences - 15 Sept 2011

Takeshita Eri, Saito Yoshiaki, Nakagawa Eiji, Komaki Hirofumi, Sugai Kenji, Sasaki Masayuki, Nezu Atsuo, Kitamura Junichi, Itoh Masayuki, Sawano Yoshie, Goto Yu-ichi

Abstract excerpt

A 26-year-old woman with psychomotor developmental delay since late infancy showed rapid deterioration of her psychomotor abilities at the 11 years of age. She had gained the ability to verbally express herself and perform motor activities such as running and dancing in early childhood, but she l...

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Source

Identifiers

PMID: 21722922
DOI: 10.1016/j.jns.2011.06.008

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21722922-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation.PMID 21722922Read ↗

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