Background: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by a CTG
repeat expansion in the DMPK gene. Aberrant messenger RNA (mRNA) splicing of several …

Background The dystrophin glycoprotein complex is disrupted in Duchenne muscular
dystrophy and many other neuromuscular diseases. The principal heterodimeric partner of …

Muscular dystrophies are a group of diseases that primarily affect striated muscle and are
characterized by the progressive loss of muscle strength and integrity. Major forms of …

α-Dystrobrevin is both a dystrophin homologue and a component of the dystrophin protein
complex. Alternative splicing yields five forms, of which two predominate in skeletal muscle …

Partial deficiency of dystrophin‐associated proteins in a young girl with sporadic myopathy and
normal karyotype | Neurology Skip to main content Skip to main content AAN.com AAN …

Abstract Myotonic dystrophy type1 (DM1) is a multisystemic disorder caused by a CTG
repeat expansion in the DMPK gene. Aberrant mRNA splicing of several genes has been …

The syntrophins and α-dystrobrevin form a subcomplex with dystrophin at the skeletal
muscle membrane, and are also highly concentrated at the neuromuscular synapse. Here …

The syntrophins and dystrobrevins are members of the dystrophin-associated protein
complex, and are thought to function as modular adaptors for signalling proteins recruited to …

Dystrobrevin is a component of the dystrophin-associated protein complex and has been
shown to interact directly with dystrophin, α1-syntrophin, and the sarcoglycan complex. The …

The importance of dystrophin and its associated proteins in normal muscle function is now
well established. Many of these proteins are expressed in nonmuscle tissues, particularly …