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Neuropathology does not Correlate with Regional Differences in the Extent of Expansion of CTG Repeats in the Brain with Myotonic Dystrophy Type 1

Myotonic dystrophy (DM1) is known to be an adult-onset muscular dystrophy caused by the expansion of CTG repeats within the 3' untranslated region of the dystrophin myotonin protein kinase (DMPK) gene. The clinical features of DM1 include CNS symptoms, such as cognitive impairment and personali...

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Detalles Bibliográficos
Autores principales: Itoh, Kyoko, Mitani, Maki, Kawamoto, Kunihiko, Futamura, Naonobu, Funakawa, Itaru, Jinnai, Kenji, Fushiki, Shinji
Formato: Texto
Lenguaje:English
Publicado: Japan Society of Histochemistry and Cytochemistry 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3015052/
https://www.ncbi.nlm.nih.gov/pubmed/21245981
http://dx.doi.org/10.1267/ahc.10019