Summary Literature (0)

DOID:11722 - myotonic dystrophy type 1

Disease Ontology 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_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.

Synonyms: Dystrophia myotonica, Steinert disease, congenital myotonic dystrophy, myotonic dystrophy of Steinert,

Echinobase Genes :


OMIM:

MIM:160900 - myotonic dystrophy 1; dm1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee