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Article

The ACTN3 R577X polymorphism is associated with inflammatory myopathies in a Mexican population.

Scandinavian journal of rheumatology - 1 Oct 2012

Sandoval-García F, Petri M H, Saavedra M A, Cruz-Reyes C V, Jara-Quezada L J, Dávalos-Rodríguez I P, Salazar-Páramo M, Gámez-Nava J I, González-López L, García-Iglesias T, Corona-Sánchez E G, Zavaleta-Muñiz S, Vargas-Ramírez R, Vázquez-Del Mercado M, Martín-Márquez B T

Abstract excerpt

BACKGROUND: The ACTN3 gene encodes the fast muscle protein α-actinin-3. The ACTN3 R577X polymorphism is a premature stop codon and results in absence of α-actinin-3 in 577XX homozygotes. The aim of this study was to determine the ACTN3 genotype in idiopathic inflammatory myopathies (IIMs). METHOD...

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Source

Identifiers

PMID: 22639897
DOI: 10.3109/03009742.2012.669495

Genes

ACTN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22639897-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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