The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation

Desminopathy is a cardiac and skeletal myopathy caused by disease-causing variants in the desmin (DES) gene and represents a subgroup of myofibrillar myopathies, where cytoplasmic desmin-postive immunoreactivity is the pathological hallmark. We herein report a 28-year-old Japanese man who was initia...

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Veröffentlicht in:	Internal Medicine 2023/10/01, Vol.62(19), pp.2883-2887
Hauptverfasser:	Takegami, Naoki, Mitsutake, Akihiko, Mano, Tatsuo, Shintani-Domoto, Yukako, Unuma, Atsushi, Yamaguchi-Takegami, Nanaka, Ishiura, Hiroyuki, Sakuishi, Kaori, Ando, Masahiko, Yamauchi, Haruo, Ono, Minoru, Morishita, Shinichi, Mitsui, Jun, Shimizu, Jun, Tsuji, Shoji, Toda, Tatsushi
Format:	Artikel
Sprache:	eng
Schlagworte:	Biopsy Cardiomyopathy Case Report Desmin desminopathy Endopeptidase K Genetic screening Immunoreactivity Internal medicine Mutation myocardial biopsy Myopathy Palate proteinase K-resistant desmin aggregation Skeletal muscle sporadic hypertrophic cardiomyopathy Ventricle
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