Desmin (ready-to-use)

GWB-CFB9E3

Synthetic peptide (unfortunately the amino acid sequence is considered to be commercially sensitive) (Human) (C terminal).

Muscle Sarcoma

Cytoplasmic

Contains sodium azide

Cytoplasmic Desmin is an intermediate filament protein of both smooth and striated muscles. Antibody to desmin reacts with striated (skeletal and cardiac) as well as smooth muscle cells. In skeletal and cardiac muscles the staining is confined to the Z-bands giving a characteristic striated appearance. Antidesmin antibody is useful in identification of tumours of myogenic origin.

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.