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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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Hlavní autoři: Itoh, Kyoko, Mitani, Maki, Kawamoto, Kunihiko, Futamura, Naonobu, Funakawa, Itaru, Jinnai, Kenji, Fushiki, Shinji
Médium: Artigo
Jazyk:Inglês
Vydáno: Japan Society of Histochemistry and Cytochemistry 2010
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3015052/
https://ncbi.nlm.nih.gov/pubmed/21245981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1267/ahc.10019
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