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Summary Literature (2)
DOID:0050759 - myotonic dystrophy type 2


Disease Ontology 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.

Synonyms: proximal myotonic myopathy

In OMIM:
OMIM:602668 - MYOTONIC DYSTROPHY 2; DM2

In Mondo Disease Ontology:
MONDO:0011266 - myotonic dystrophy type 2

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : cnbp

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): myotonic disease (is_a)