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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

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