Project name: Homo sapiens

Description: Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) is caused by mutations in the Valosin Containing Protein (VCP) gene on chromosome 9p12-13.To elucidate affected signaling transduction axes in IBMPFD, we determined expression profiles using microarray technology in quadriceps muscle from patients and unaffected relatives.Overall design: Muscle from 10 individuals (7 affected, 3 unaffected first degree relatives) was obtained after informed consent for the muscle biopsy was obtained.

Data type: Transcriptome or Gene expression

Sample scope: Multiisolate

Relevance: Medical

Release date: 2012-07-19

Last updated: 2011-07-20