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Article

[Neurodevelopmental (fragile X syndrome) and neurodegenerative (tremor/ataxia syndrome) disorders associated to the 'growth' of a gene].

Revista de neurologia - 1 Jan 2000

Castro-Volio I, Cuenca-Berger P

Abstract excerpt

AIM: To present the latest findings on fragile X syndrome, the first genetic disorder identified to be caused by a new type of mutation called trinucleotide repeat expansion. DEVELOPMENT: Fragile X syndrome is the most common form of inherited mental retardation, is caused by hyperexpansion and hypermethylation of a CGG repeat tract in the FMR1 gene. In the first section we will discuss the various aspects of the...

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Source

Identifiers

PMID: 15849678

Genes

FMR1

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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