Ontology highlight
ABSTRACT:
SUBMITTER: Stevens-Lapsley JE
PROVIDER: S-EPMC3058480 | biostudies-literature | 2010 Dec
REPOSITORIES: biostudies-literature
Stevens-Lapsley Jennifer E JE Kramer Laurel R LR Balter Jaclyn E JE Jirikowic Jean J Boucek Dana D Taylor Matthew M
Muscle & nerve 20101201 6
Danon disease is a rare X-linked myopathy that is characterized clinically by a triad of cardiomyopathy, skeletal myopathy, and cognitive impairment. The purpose of this investigation was to quantify functional performance, muscle weakness, and quadriceps activation in individuals with Danon disease as compared with healthy individuals. Four males (ages 10-34 years) and 4 females (ages 16-50 years), with the genetic markers of Danon disease, were compared with 8 healthy males (ages 22-34 years) ...[more]