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[Preprint]. 2024 Oct 14:rs.3.rs-4915388. [Version 1] doi: 10.21203/rs.3.rs-4915388/v1

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Myopathological findings from patients with DNAJB4 variants. (a) H&E staining from P1 at 4 years of age, demonstrating marked variation in fiber size, prominent endomysial fibrosis, and adipose tissue infiltration. Scale bar: 100 μm. (b-d) Quadriceps biopsy from P2 at 5 years of age. (b) H&E staining showing moderate variation in fiber size and a few small angular fibers. Scale bar: 50 μm. (c) NADH-tetrazolium reductase (NADH-TR) staining highlighting small rubbed out areas (arrows). Scale bar: 50 μm. (d) ATPase staining at pH 9.4 demonstrating mild type 2 fiber atrophy. Scale bar: 50 μm.