| umls-concept:C1839259 | skos:definition | MSH: An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.,NCI: A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized by bulbar and limb muscle weakness and atrophy, and gynecomastia. | lld:umls |
