Article
The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation.
Internal medicine (Tokyo, Japan) - 1 Oct 2023
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
Abstract excerpt
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 initially diagnosed with sporadic hypertrophic cardiomyopathy with atrioventricular block at 9 years old and developed...
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