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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B.
Acta Neuropathol. 2023 Jun;145(6):793-814. doi: 10.1007/s00401-023-02565-1. Epub 2023 Mar 31.
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Long-read sequencing improves diagnostic rate in neuromuscular disorders.
Owusu R, Savarese M.
Acta Myol. 2023 Dec 20;42(4):123-128. doi: 10.36185/2532-1900-394. eCollection 2023.
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Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation.
Yang K, Zeng YH, Qiu YS, Lin F, Chen HZ, Jin M, Chen L, Zheng FZ, Ding YL, Cao CY, Lin MT, Chen WJ, Wang ZQ, Wang N.
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Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.