Desmin

IgG1. k

Desmin

4. 53mg/ml (OD280nm E0. 1% = 1. 4)Preservatives: NaN3

This product contains sodium azide which has been classified as Xn (Harmful) in European Directive 67/548/EEC in the concentration range of 0. 1â ??1. 0%. When disposing of this reagent through lead or copper plumbing flush with copious volumes of water to prevent azide build-up in drains. MAb to Desmin. Monoclonal Antibody to Desmin

Homopolymer.

Defects in DES are the cause of desmin-related cardio-skeletal myopathy (CSM) [MIM:601419]; also known as desmin-related myopathy (DRM). CSM is characterized by skeletal muscle weakness associated with cardiac conduction blocks arrhythmias restrictive heart failure and by intracytoplasmic accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. A desmin-related myopathy can have a distal onset it is then known as hereditary distal myopathy (HDM).

Defects in DES are the cause of neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]. Kaeser syndrome is an autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical myofibrillar changes with accumulation of desmin.