The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs: weakness, motor delay, and respiratory and bulbar dysfunction. The myopathies are caused by genetic defects in the contractile apparatus of muscle, and defined by distinctive histochemical or ultrastructural changes on muscle biopsy. The muscular dystrop...

The idiopathic inflammatory myopathies are a heterogeneous group of rare chronic autoimmune diseases that include polymyositis (PM) and dermatomyositis (DM). Antisynthetase syndrome (ASS) is recognized as a subset of the idiopathic inflammatory myopathies and the syndrome is characterized by myositis associated with interstitial lung disease (ILD) and autoantibodies against aminoacyl-tRNA synth...

Idiopathic inflammatory myopathy (IIM) is the umbrella term including dermatomyositis (DM), polymyositis (PM), overlap myositis (OM), sporadic inclusion body (IBM) and necrotising autoimmune (NAM), also known as immune-mediated myopathy. There some debate to whether PM exists a discrete entity, or perhaps an overly generalising encompassing connective tissue disease associated myositis, OM, pre...

INTRODUCTION The purpose of this study was to evaluate and compare the serum levels and local expression of resistin in patients with idiopathic inflammatory myopathies to controls, and to determine the relationship between resistin levels, inflammation and disease activity. METHODS Serum resistin levels were determined in 42 patients with inflammatory myopathies and 27 healthy controls. The ...

Pearson syndrome. Clinical spectrum of mitochondrial disorders is broad, so consensus diagnostic criteria for mitochondrial disorders have been proposed for children and adults. Sequence map of human mitochondrial genome with its normal and patho­ genic variants is publicly available. In this review, we will discuss genetic features of mitochondrial myopathies as well as their key findings. Rep...

Abstract The genetic selection toward bigger broilers provoked the development of muscular myopathies and abnormalities. Since affected meat is downgraded often inadequate for further processing, economic losses to broiler industry are inevitable. In addition, not only nutritional value has been decreased, but also sensory properties technological traits seem concern consumers more. This can ha...