Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient

We herein report a Japanese patient with 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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Detalles Bibliográficos
Autores principales: Miyashita, Koichi, Ii, Yuichiro, Matsuyama, Hirofumi, Niwa, Atsushi, Kawana, Yosuke, Shibata, Soshi, Minami, Narihiro, Nishino, Ichizo, Tomimoto, Hidekazu
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/PMC10641181/
https://www.ncbi.nlm.nih.gov/pubmed/36792202
http://dx.doi.org/10.2169/internalmedicine.0425-22
Descripción
Sumario:We herein report a Japanese patient with 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 revealed increased central nuclei, pyknotic nuclear clumps and muscle fiber atrophy, mainly in type 2 fibers, raising the possibility of DM2. The diagnosis was genetically confirmed by the abnormal CCTG repeat size in cellular nucleic acid-binding protein (CNBP) on repeat-primed polymerase chain reaction, which was estimated to be around 4,500 repeats by Southern blotting.

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