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Article

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.

Annals of neurology - 1 May 2000

Amir R E, Van den Veyver I B, Schultz R, Malicki D M, Tran C Q, Dahle E J, Philippi A, Timar L, Percy A K, Motil K J, Lichtarge O, Smith E O, Glaze D G, Zoghbi H Y

Abstract excerpt

We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing and determined the pattern of X chromosome inactivation (XCI) in 39 RTT patients. We identified 23 different disease-causing MECP2 mutations in 54 of 71 (76%) sporadic patients and in 2 of 7 (29%) familial cases. We compared electrophysiological findings, cerebrospinal fluid neurochemistry, and 13 clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10805343

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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