Visualize Submit Comment

Metadata
ID	DOID:0111223
Name	centronuclear myopathy 1
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. https://www.ncbi.nlm.nih.gov/pubmed/16227997
Xrefs	MIM:160150
Synonyms	CNM1 [EXACT]
Parent Relationships	is_a autosomal dominant centronuclear myopathy