Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients
Author:
Funder
the military training injury prevention research missio
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-023-01138-0.pdf
Reference21 articles.
1. Cowling BS, Cottle DL, Wilding BR, D’Arcy CE, Mitchell CA, McGrath MJ. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. Neuromuscul Disord. 2011;21:237–51.
2. Chen T, Lu X, Shi Q, Guo J, Wang H, Wang Q, et al. FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy. Neuromuscul Disord. 2020;30:165–172.
3. Bertrand AT, Bönnemann CG, Bonne G, FHL1 Myopathy Consortium. 199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, the Netherlands. Neuromuscul Disord. 2014;24:453–62.
4. Hu Z, Zhu Y, Liu X, Zhang W, Liu J, Wu S, et al. FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy. J Hum Genet. 2019;64:919–26.
5. Mota IA, Correia CDC, Fontana PN, Carvalho AAS. Reducing body myopathy—a new pathogenic FHL1 variant and literature review. Neuromuscul Disord. 2021;31:847–53.
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