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Article

RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

Brain & development - 1 Mar 2005

Nakamura Miki, Yamagata Takanori, Mori Masato, Momoi Mariko Y

Abstract excerpt

Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene. Coffin-Lowry syndrome patients can experience unusual drop episodes whereby an abrupt loss of muscle tone and falling down can be induced by sudden, unexpected tactile or auditory stimuli. We detected a C913T (R305X) mutation in a female Coffin-Lowry syndrome patient with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15668050
DOI: 10.1016/j.braindev.2004.02.015

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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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