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A Case of Sporadic Ullrich Congenital Muscular Dystrophy Caused by a COL6A1 Mutation

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Academic year: 2021

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Figure 1. Joint and bone abnormalities in Ullrich disease. (A) Metacarpophalangeal and proximal interphalangeal joints are  hyperextensible
Figure 2. Histopathological and immunohistochemical findings of skeletal muscle. (A) H&E stain shows fiber size variation  and few degenerating fibers
Figure 3. A schematic diagram of protein structure encoded  by  COL6A1. The mutation of p.Gly290Arg identified in our  patient is located in N-terminal side from cysteine residue  in triple helical domain (THD).

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