Ontology highlight
ABSTRACT:
SUBMITTER: Newell C
PROVIDER: S-EPMC5413456 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Newell Christopher C Ramage Barbara B Nettel-Aguirre Alberto A Robu Ion I Khan Aneal A
JIMD reports 20160913
Metabolic diseases that lead to neuromuscular, bone, and joint involvement can reduce ambulation and quality of life. Using jumping mechanography, we developed a novel assessment, peak jump power (PJP), and related this to ambulatory ability in patients either having a known or suspected underlying rare disease. From adults and children, we recruited 88 healthy controls and 115 patients (61 with mitochondrial disease and 54 with another diagnosis). Patients were categorized as having no complain ...[more]