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2016 (v1)PublicationUploaded on: April 14, 2023
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2023 (v1)Publication
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Uploaded on: February 4, 2024 -
2016 (v1)Publication
Activation of the proteasome pathway is one of the secondary processes of cell damage, which ultimately lead to muscle degeneration and necrosis in Duchenne muscular dystrophy (DMD). In mdx mice, the proteasome inhibitor bortezomib up-regulates the membrane expression of members of the dystrophin complex and reduces the inflammatory reaction....
Uploaded on: April 14, 2023 -
2018 (v1)Publication
We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked reduction of dystrophin expression leading to genetic analysis of DMD gene by MLPA, which detected a single deletion of exon 78. To the best of our knowledge, DMD exon 78 deletion has never...
Uploaded on: April 14, 2023