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Dominant collagen XII mutations cause a distal myopathy.
Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, Bönnemann CG. Mohassel P, et al. Among authors: liewluck t. Ann Clin Transl Neurol. 2019 Oct;6(10):1980-1988. doi: 10.1002/acn3.50882. Epub 2019 Sep 11. Ann Clin Transl Neurol. 2019. PMID: 31509352 Free PMC article.
Characterization of isolated amyloid myopathy.
Liewluck T, Milone M. Liewluck T, et al. Eur J Neurol. 2017 Dec;24(12):1437-1445. doi: 10.1111/ene.13448. Epub 2017 Oct 5. Eur J Neurol. 2017. PMID: 28888072
129 results