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Article

Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation.

Journal of neurophysiology - 1 Mar 2013

Conde Virginia, Palomar Francisco J, Lama María José, Martínez Raquel, Carrillo Fátima, Pintado Elizabeth, Mir Pablo

Abstract excerpt

The fragile X syndrome is a mutation-driven developmental disorder caused by a repetition over 200 times of the CGG trinucleotide situated in the 5'-untranslated region of the fragile X mental retardation 1 gene (FMR1). The interval between 55 and 199 CGG repeats, which is over the normal range but below full mutation, is named fragile X premutation. Recent studies have focused on the asymptomatic state of...

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Source

Identifiers

PMID: 23236003
DOI: 10.1152/jn.00730.2012

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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