Study of the metabolome and muscle strength measures for the characterization of patients with myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is an autosomal dominant hereditary disease caused by an alteration leading to an abnormal expansion of unstable repetitions of CTG in the 3’ untranslated region of Myotonic Dystrophy Protein Kinase (DMPK) gene. DM1 is characterized by myotonia, progressive distal mus...
Main Author: | |
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Format: | masterThesis |
Language: | eng |
Published: |
2023
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Online Access: | http://hdl.handle.net/10773/30819 |
Country: | Portugal |
Oai: | oai:ria.ua.pt:10773/30819 |