GEO DataSets

Analysis of various skeletal muscles of trangenics expressing the human Met9Arg alpha-tropomyosin slow mutant gene, a model of nemaline myopathy (NM). NM, a non-dystrophic congenital myopathy, is a variably severe neuromuscular disorder. Results provide insight into the pathogenesis of NM.

Organism:

Mus musculus

Type:

Expression profiling by array, count, 2 age, 2 disease state, 5 tissue sets

Platform:

GPL81

Series:

GSE3384

36 Samples

Download data: CEL, EXP

(Submitter supplied) The aim of this study was to investigate the molecular mechanisms implicated in this mouse model of nemaline myopathy, and to further compare the molecular disease response in different skeletal muscles. For this purpose, snap frozen skeletla muscle specimens from wild type and transgenic for alpha tropomyosin slow mice were studied. Five different muscle types were used (diaphragm, plantaris, extensor digitorum longus, tibialis anterior, gastrocnemus). more...

Organism:

Mus musculus

Type:

Expression profiling by array

Dataset:

GDS2312

Platform:

GPL81

36 Samples

Download data: CEL, EXP

(Submitter supplied) Nebulin is a giant filamentous protein that is coextensive with the actin filaments of the skeletal muscle sarcomere. Nebulin mutations are the main cause of nemaline myopathy (NEM), with typical NEM adult patients having low expression of nebulin, yet the roles of nebulin in adult muscle remain poorly understood. To establish nebulin’s functional roles in adult muscle we performed studies on a novel conditional nebulin KO (Neb cKO) mouse model in which nebulin deletion was driven by the muscle creatine kinase (MCK) promotor. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Datasets:

GDS5880 GDS5881

Platform:

GPL6246

24 Samples

Download data: CEL

Analysis of soleus muscles from 6 week old males with a conditional knockout of nebulin in their striated muscles. Nebulin is a giant filamentous protein that is coextensive with actin filaments of the skeletal muscle sarcomere. Results provide insight into the role of nebulin in adult muscles.

Organism:

Mus musculus

Type:

Expression profiling by array, count, 2 genotype/variation sets

Platform:

GPL6246

Series:

GSE70213

12 Samples

Download data: CEL

Analysis of quadriceps muscles from 6 week old males with a conditional knockout of nebulin in their striated muscles. Nebulin is a giant filamentous protein that is coextensive with actin filaments of the skeletal muscle sarcomere. Results provide insight into the role of nebulin in adult muscles.

Organism:

Mus musculus

Type:

Expression profiling by array, count, 2 genotype/variation sets

Platform:

GPL6246

Series:

GSE70213

12 Samples

Download data: CEL

(Submitter supplied) Maintenance of muscle function requires assembly of contractile proteins into highly organized sarcomeres. Mutations in Kelch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated with sarcomere disarray. We generated KLHL41 mutant mice, which display lethal disruption of sarcomeres and aberrant expression of muscle structural and contractile proteins, mimicking the hallmarks of the human disease. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL17021

6 Samples

Download data: TXT

(Submitter supplied) Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle dysfunction and is thought to be a disease of the sarcomere thin filament. Recently, several proteins of unknown function have been implicated in NM, and their role in the disease remains unresolved. Here, we demonstrate that loss of a muscle-specific protein, Klhl40, results in a nemaline-like myopathy in mice that closely phenocopies the muscle abnormalities observed KLHL40 deficient patients. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Dataset:

GDS5295

Platform:

GPL6887

6 Samples

Download data: TXT

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

Type:

Expression profiling by array, count, 2 genotype/variation sets

Platform:

GPL6887

Series:

GSE56570

6 Samples

Download data

(Submitter supplied) Purpose: Congenital myopathies (CM) are a group of clinically and genetically heterogeneous muscle disorders, characterized by muscle weakness and hypotonia from birth. Currently, no definite treatment exists for CM. A novel and de novo mutation in tropomyosin 3 [TPM3(E151G)] was identified from a 7-year-old boy with clinically diagnosed CM. TPM3(E151A) mutation was previously reported as causing CM. more...

Organism:

Danio rerio

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24995

10 Samples

Download data: XLSX