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Article

Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

European journal of medical genetics - 1 Mar 2017

Tumienė Birutė, Voisin Norine, Preikšaitienė Eglė, Petroška Donatas, Grikinienė Jurgita, Samaitienė Rūta, Utkus Algirdas, Reymond Alexandre, Kučinskas Vaidutis

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is an inflammatory disorder belonging to the recently characterized group of type I interferonopathies. The most consistently affected tissues in AGS are the central nervous system and skin, but various organ systems and tissues have been reported to be affected, pointing to the systemic nature of the disease. Here we describe a patient with AGS due to a homozygous p.Arg114His...

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Source

Identifiers

PMID: 28089741
DOI: 10.1016/j.ejmg.2016.12.004

Genes

TREX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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