Dataset Information


Skeletal muscle biopsies of patients with myotonic dystrophy (DM) and non-DM neuro-muscular disorders

ABSTRACT: Skeletal muscle biopsies from DM1, DM2, idiopathic DM (DMx), and non-DM NMD patients were compared to those from normal individuals, with focus on MEF2 and MEF2-related genes. Keywords: 7 diseases and 2 normal (fetal and adult) groups Overall design: Skeletal muscle biopsies from 10 DM1 biopsies, 20 DM2 biopsies, 16 DMx (DM-like, no DMPK or ZNF9 expansion), 5 BMD (Becker Muscular Dystrophy), 1 MC-AD (Myotonia Congenita-Autosomal Dominant), 3 DMD (Duchenne Muscular Dystrophy), 4 TMD (Tibial Muscular Dystrophy), 3 Normal Fetal and 6 Normal individuals

INSTRUMENT(S): [HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array

SUBMITTER: Mario Sirito  

PROVIDER: GSE13608 | GEO | 2017-08-29



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Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders.

Bachinski Linda L LL   Sirito Mario M   Böhme Maria M   Baggerly Keith A KA   Udd Bjarne B   Krahe Ralf R  

Muscle & nerve 20101201 6

Because of their central role in muscle development and maintenance, MEF2 family members represent excellent candidate effectors of the muscle pathology in myotonic dystrophy (DM). We investigated the expression and alternative splicing of all four MEF2 genes in muscle from neuromuscular disorder (NMD) patients, including DM1 and DM2. We observed MEF2A and MEF2C overexpression in all NMD muscle, including 12 MEF2-interacting genes. Exon 4 and 5 usage in MEF2A and MEF2C was different between DM a  ...[more]

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