Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient: A Case Report

We herein report a Japanese patientwith myotonic dystrophy type 2 (DM2), which is rare in Japan. A 64-year-oldman had proximal muscle weakness and grip myotonia. Electromyography showed myotonic discharges, but dystrophia-myotonica protein kinase (DMPK) was negative for CTG repeats. A muscle biopsy...

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Veröffentlicht in:	Internal Medicine 2023, pp.0425-22
Hauptverfasser:	Miyashita, Koichi, Ii, Yuichiro, Matsuyama, Hirohumi, Niwa, Atsushi, Kawana, Yosuke, Shibata, Soshi, Minami, Narihiro, Nishino, Ichizo, Tomimoto, Hidekazu
Format:	Artikel
Sprache:	eng
Schlagworte:	gene analysis muscle biopsy myotonic dystrophy type 2
Online-Zugang:	Volltext
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