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myotonic dystrophy type 1
Summary
- Synonym
-
- Dystrophia myotonica
- Steinert disease
- congenital myotonic dystrophy
- myotonic dystrophy of Steinert
- Definition
- A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
- Super Class
- myotonic disease
External Links
- Disease Ontology
- DOID:11722
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
