Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud’s Arthropathy

OBJECTIVE. To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon rupture, reminiscent of Jaccoud’s arthropathy. METHODS. We identified 2 families segregating an autosomal-dominant phen...

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Vydáno v:Arthritis Rheumatol
Hlavní autoři: de Carvalho, Luciana Martins, Ngoumou, Gonza, Park, Ji Woo, Ehmke, Nadja, Deigendesch, Nikolaus, Kitabayashi, Naoki, Melki, Isabelle, Souza, Flávio Falcäo L., Tzschach, Andreas, Nogueira-Barbosa, Marcello H., Ferriani, Virgínia, Louzada-Junior, Paulo, Marques, Wilson, Lourencço, Charles M., Horn, Denise, Kallinich, Tilmann, Stenzel, Werner, Hur, Sun, Rice, Gillian I., Crow, Yanick J.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6099183/
https://ncbi.nlm.nih.gov/pubmed/28605144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/art.40179
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