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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG. Donkervoort S, et al. Among authors: mammen al. Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free PMC article.
The spectrum of statin myopathy.
Mohassel P, Mammen AL. Mohassel P, et al. Among authors: mammen al. Curr Opin Rheumatol. 2013 Nov;25(6):747-52. doi: 10.1097/01.bor.0000434673.85515.89. Curr Opin Rheumatol. 2013. PMID: 24061077 Review.
Laing distal myopathy pathologically resembling inclusion body myositis.
Roda RH, Schindler AB, Blackstone C, Mammen AL, Corse AM, Lloyd TE. Roda RH, et al. Among authors: mammen al. Ann Clin Transl Neurol. 2014 Dec;1(12):1053-8. doi: 10.1002/acn3.140. Epub 2014 Nov 6. Ann Clin Transl Neurol. 2014. PMID: 25574480 Free PMC article.
Anti-HMGCR Myopathy.
Mohassel P, Mammen AL. Mohassel P, et al. Among authors: mammen al. J Neuromuscul Dis. 2018;5(1):11-20. doi: 10.3233/JND-170282. J Neuromuscul Dis. 2018. PMID: 29480216 Free PMC article. Review.
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.
Mohassel P, Landon-Cardinal O, Foley AR, Donkervoort S, Pak KS, Wahl C, Shebert RT, Harper A, Fequiere P, Meriggioli M, Toro C, Drachman D, Allenbach Y, Benveniste O, Béhin A, Eymard B, Lafôret P, Stojkovic T, Mammen AL, Bönnemann CG. Mohassel P, et al. Among authors: mammen al. Neurol Neuroimmunol Neuroinflamm. 2018 Dec 12;6(1):e523. doi: 10.1212/NXI.0000000000000523. eCollection 2019 Jan. Neurol Neuroimmunol Neuroinflamm. 2018. PMID: 30588482 Free PMC article.
197 results