Term Name: myotonic dystrophy type 2
Synonyms:
Definition: A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
Ontology: Human Disease [DOID:0050759]   ( DOID:0050759 )

Relationships
is a type of: myotonic disease