C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
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Panorama of the distal myopathies.
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Acta Myol. 2020 Dec 1;39(4):245-265. doi: 10.36185/2532-1900-028. eCollection 2020 Dec.
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Long-read sequencing improves diagnostic rate in neuromuscular disorders.
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Acta Myol. 2023 Dec 20;42(4):123-128. doi: 10.36185/2532-1900-394. eCollection 2023.
PMID:38406378
Inclusion Body Myositis: Update on Pathogenesis and Treatment.