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E-GEOD-12648 - Transcription profiling of human muscle specimens from 10 HIBM patients carrying the M712T Persian Jewish founder mutation to investigate hereditary inclusion body myopathy (HIBM)

Status
Released on 25 October 2008, last updated on 27 March 2012
Organism
Homo sapiens
Samples (20)
Array (1)
Protocols (5)
Description
HIBM is a neuromuscular disorder characterized by adult-onset, slowly progressive distal and proximal muscle weakness. Here, gene expression was measured in muscle specimens from 10 HIBM patients carrying the M712T Persian Jewish founder mutation in GNE and presenting with mild histological changes, and from 10 healthy matched control individuals. Experiment Overall Design: Samples were taken from muscle specimens (deltoid, biceps, quadriceps, tibialis), from 10 HIBM patients carrying the M712T Persian Jewish founder mutation in GNE and presenting with mild histological changes. Ages of patients range between 20 to 59. Additional 10 matched samples were taken from healthy control individuals (deltoid, biceps, quadriceps, gluteus, paraspinally and triceps muscles), with age range 18 to 74.
Experiment types
transcription profiling by array, unknown experiment type
Contact
Citation
Mitochondrial processes are impaired in hereditary inclusion body myopathy. Novershtern Eisenberg, Becker-Cohen Itzhaki, Willems Sadeh, Koopman Friedman, Mitrani-Rosenbaum. Hum Mol Genet  (2008)
MIAME
PlatformsProtocolsVariablesProcessedRaw
Files
Investigation descriptionE-GEOD-12648.idf.txt
Sample and data relationshipE-GEOD-12648.sdrf.txt
Raw data (1)E-GEOD-12648.raw.1.zip
Processed data (1)E-GEOD-12648.processed.1.zip
Array designA-AFFY-33.adf.txt
R ExpressionSetE-GEOD-12648.eSet.r
Links