A case of myotonic dystrophy type 1 with paternal history of clinical worsening
Myotonic dystrophy type 1 (DM1) is an autosomal dominantdisease associated with the expansion of trinucleotide CTG repeatsin the dystrophia myotonica protein kinase (DMPK) gene.DM1 is clinically manifested by a combination of myotonia,progressive atrophy of skeletal muscles, and the multisystemiccha...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Research Center of Neurology
2017-02-01
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| Series: | Анналы клинической и экспериментальной неврологии |
| Subjects: | |
| Online Access: | https://annaly-nevrologii.com/journal/pathID/article/viewFile/144/46 |