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disease characterized by remittent fever, skin rash, emaciation of the face and upper body, and long gnarled fingers with contractures. Mutation of the gene encoding the β5i subunit of the… Click to show full abstract
disease characterized by remittent fever, skin rash, emaciation of the face and upper body, and long gnarled fingers with contractures. Mutation of the gene encoding the β5i subunit of the immunoproteasome causes the accumulation of ubiquitinated or oxidative protein due to proteasomal dysfunction 1. Ø Inclusion body myositis (IBM) is a form of inflammatory myositis characterized by weakness and atrophy of the quadriceps femoris (QF) and flexor digitorum profundus (FDP) 2. Ø Although the pathogenesis of IBM is unknown, proteasomal dysfunction is thought to be a major mechanism. In this study, we investigated the clinical and pathological features of NNS and IBM.
Journal Title: Journal of the Neurological Sciences
Year Published: 2017
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