Muscle pathology in McLeod syndrome is usually mild; patchy necrotic or regenerating fibres, occasional internal nuclei, and the absence of an inflammatory cell infiltrate are the usual findings. We report on a 29 year old man presenting with chronic fatiguability and excessive sweating in whom an open quadriceps muscle biopsy demonstrated grouped necrotic fibres accompanied by striking patchy ...

Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by the expansion of a polyglutamine stretch within the huntingtin protein (HTT). The neurological symptoms, that involve motor, cognitive and psychiatric disturbances, are caused by neurodegeneration that is particularly widespread in the basal ganglia and cereberal cortex. HTT is ubiquitously expressed and in recent ye...

Myotonic dystrophy type 1 (DM1) is a complex neuromuscular disease characterized by skeletal muscle wasting, weakness, and myotonia. DM1 is caused by the accumulation of CUG repeats, which alter the biological activities of RNA-binding proteins, including CUG-binding protein 1 (CUGBP1). CUGBP1 is an important skeletal muscle translational regulator that is activated by cyclin D3-dependent kinas...

The present study seeks to discuss the incidence of a stress fracture in not athletes. This type pathology occurs as result repetitive number movements given region, fatigue and muscle imbalance are main responsible for these fractures, which mainly affect runners military, groups that more susceptible large amount impact In practice, has been increasing non-athletes. To do so, it reviews liter...

Muscle biopsy is an important and essential tool in the diagnosis and treatment of muscle disease. For several decades, histological staining of paraffin-embedded tissue was used in muscle pathology. In the past few decades, freshfrozen enzyme histochemical techniques have become the standard for assessing muscle disease. They have been complemented by the use of electron microscopy to characte...

dear editor:   we thank dr asadi amoli for her interest in our article. 1 dr asadi amoli pointed out that specific and sensitive rhabdomyosarcoma (rms) markers should be investigated in our case. 2 we agree with dr asadi amoli ’s opinion and are sorry that the results of pathology examination and myogenin (myf-4) staining studied in a local hospital were not provided in our case report.   an ex...

The morphology of the extensor carpi radialis brevis (ECRB) muscle was investigated in 20 patients with longstanding lateral epicondylitis. Muscle biopsies were obtained from the proximal or distal portion of the ECRB and analysed by enzyme- and immunohistochemical methods. Morphological abnormalities were significantly more frequent in patients than controls and included moth-eaten fibres, fib...

Congenital muscular dystrophies with collagen VI deficiency are inherited muscle disorders with a broad spectrum of clinical presentation and are caused by mutations in one of COL6A1-3 genes. Muscle pathology is characterized by fiber size variation and increased interstitial fibrosis and adipogenesis. In this study, we define critical events that contribute to muscle weakness and fibrosis in a...

Rapid repair of plasma membrane wounds is critical for cellular survival. Muscle fibers are particularly susceptible to injury, and defective sarcolemma resealing causes muscular dystrophy. Caveolae accumulate in dystrophic muscle fibers and caveolin and cavin mutations cause muscle pathology, but the underlying mechanism is unknown. Here we show that muscle fibers and other cell types repair m...

When unperturbed, somatic stem cells are poised to affect immediate tissue restoration upon trauma. Yet, little is known regarding the mechanistic basis controlling initial and homeostatic 'scaling' of stem cell pool sizes relative to their target tissues for effective regeneration. Here, we show that TEAD1-expressing skeletal muscle of transgenic mice features a dramatic hyperplasia of muscle ...