Metadata | |
---|---|
ID | DOID:0111191 |
Name | distal myopathy Tateyama type |
Definition | A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. https://www.ncbi.nlm.nih.gov/pubmed/11805270 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
distal muscular dystrophy Tateyama type [EXACT] |
Parent Relationships |
is_a distal myopathy |