Term Name: centronuclear myopathy 1
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 )

Relationships
is a type of: autosomal dominant centronuclear myopathy