Term Name: | centronuclear myopathy 1 |
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Synonyms: | CNM1 |
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. |
Ontology: | Human Disease [DOID:0111223] ( DOID:0111223 ) |