centronuclear myopathy 1 (DOID:0111223)
Alliance: disease page
Synonyms: CNM1
Alt IDs: OMIM:160150
Definition: An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.