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Cell type-specific abnormalities of central nervous system in myotonic dystrophy type 1
Myotonic dystrophy type 1 is a multisystem genetic disorder involving the muscle, heart and CNS. It is caused by toxic RNA transcription from expanded CTG repeats in the 3′-untranslated region of DMPK, leading to dysregulated splicing of various genes and multisystemic symptoms. Although aberrant sp...
Autores principales: | Nakamori, Masayuki, Shimizu, Hiroshi, Ogawa, Kotaro, Hasuike, Yuhei, Nakajima, Takashi, Sakurai, Hidetoshi, Araki, Toshiyuki, Okada, Yukinori, Kakita, Akiyoshi, Mochizuki, Hideki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218787/ https://www.ncbi.nlm.nih.gov/pubmed/35770133 http://dx.doi.org/10.1093/braincomms/fcac154 |
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