DISEASES

Disease-gene associations mined from literature

Human genes for myotonic dystrophy type 1

Myotonic dystrophy type 1 [DOID:11722]

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:  myotonic dystrophy type 1,  DOID:11722,  Dystrophia myotonica,  Steinert disease,  congenital myotonic dystrophy ...

Linkouts:  OMIM #1 #2