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

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.

Species:

human

Samples:

20

Source:

E-GEOD-12648

PubMed:

18723858

Updated:

Dec.12, 2014

Registered:

Jun.19, 2014