Term Name: | myotonic dystrophy type 2 |
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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 ) |