DataSet Record GDS5295: Expression Profiles Data Analysis Tools Sample Subsets
Title: Kelch-like family member 40 deficiency effect on the skeletal muscle
Cluster AnalysisGDS5295 Cluster Image
Summary: Analysis of quadriceps muscles of mutants lacking kelch-like family member 40 (KLHL40). KLHL40 mutations occur in severe nemaline myopathies (NMs). NMs are congenital myopathies that can result in lethal muscle dysfunction. Results provide insight into the role of KLHL40 in the pathogenesis of NM.
Organism: Mus musculus
Platform: GPL6887: Illumina MouseWG-6 v2.0 expression beadchip
  • Garg A, O'Rourke J, Long C, Doering J et al. KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest 2014 Aug;124(8):3529-39. PMID: 24960163
Reference Series: GSE56570 Sample count: 6
Value type: count Series published: 2014/04/08