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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602824/
https://www.ncbi.nlm.nih.gov/pubmed/36792195
http://dx.doi.org/10.2169/internalmedicine.0992-22

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