Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
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Duff RM, et al. Among authors: kennedy p.
Am J Hum Genet. 2011 Jun 10;88(6):729-740. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27.
Am J Hum Genet. 2011.
PMID: 21620354
Free PMC article.