centronuclear myopathy 1

Term ID

DOID:0111223

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. https://www.ncbi.nlm.nih.gov/pubmed/16227997

References

• OMIM:160150

Ontology

Human Disease   ( DOID:0111223 )