Search results for "DESMIN-RELATED MYOPATHY"
showing 3 items of 3 documents
Desmin-related myopathies
1997
Desmin-related myopathies are marked by accumulation of desmin, which is often familial and associated with cardiomyopathy. When multifocal this excess is characterized by inclusions such as cytoplasmic or spheroid bodies, when disseminated the excess is called granulofilamentous material. Excess of desmin might represent an abnormal type of protein metabolism.
Prophylactic Implantable Cardioverter Defibrillator Placement in a Sporadic Desmin Related Myopathy and Cardiomyopathy
2004
Desminopathy is a neuromuscular disorder associated with the accumulation of the protein desmin. This article reports a case of a man with a mutation in the desmin gene suffering from cardiomyopathy and skeletal myopathy. This patient underwent implantable cardioverter defibrillator (ICD) implantation for prognostic considerations and subsequently developed a sustained ventricular tachycardia (SVT). While nonsustained VTs (NSVT) have previously been reported, this is the first time that a SVT could be seen in a patient with this disease.
Primary desminopathies.
2007
• Introduction • Desmin is an essential component of the extrasarcomeric cytoskeleton in striated muscle cells • Distal myopathy,cardiac arrhythmias,cardiomyopathy:classical criteria of primary desminopathies • Sub-sarcolemmal and cytoplasmic desmin-positive protein aggregates:the morphological hallmark of primary and secondary desminopathies • The spectrum of pathogenic desmin gene mutations • The molecular pathogenesis of primary desminopathies: some answers gained,but even more questions raised • Diagnostic work-up to distinguish primary from secondary desminopathies • Treatment and clinical management of primary desminopathy patients Abstract Mutations of the human desmin gene o…