Myofibrillar myopathies (MFMs) are a group of sporadic and hereditary skeletal muscle diseases, which lead to severe physical disability and premature death. Most MFMs are caused by mutations in genes encoding desmin, plectin, VCP, filamin C, BAG3, FHL-1, αB-crystallin, DNAJB6, myotilin, and ZASP. Biomechanical studies on primary human myoblasts carrying desmin and plectin mutations showed incr...

Muscle fiber atrophy and loss is a characteristic of a wide range of neuromuscular affections. Over the past years, there has been increasing evidence that apoptotic cell death mechanisms contribute to this loss. While the initiating stimuli of apoptotic muscle fiber death such as homeostatic dysregulations and oxidative stress seems to be manifold and assumedly disease-specific the up-regulati...

The inflammatory myopathies, including dermatomyositis, inclusion body myositis, and polymyositis, are poorly understood autoimmune diseases affecting skeletal muscle. Dermatomyositis is a disease mainly of skin and muscle, but may affect lung and other tissues. Proximal or generalized weakness or skin rash are the typical presenting features. Inclusion body myositis has a specific clinical pat...

The centronuclear myopathies (CNMs) are a group of inherited neuromuscular disorders classified as congenital myopathies. While several causative genes have been identified, some patients do not harbor any of the currently known mutations. These diverse disorders have common histological features, which include a high proportion of centrally nucleated muscle fibers, and clinical attributes of m...

There is increasing evidence to suggest that viruses have aetiological roles in inflammatory myopathies. It has been reported that viruses, by means of direct infection of the skeletal muscle, can cause myalgias, polymyositis, and virus-associated rhabdomyolysis. It has also been found that some viruses can cause myositis through a secondary immune-mediated phenomenon. In addition, there are em...

Objective Immune myopathies with perimysial pathology (IMPP) have a combination of damage to perimysial connective tissue and muscle fiber necrosis, more prominent near the perimysium. We studied the clinical and laboratory correlates of patients with pathologically defined IMPP. Methods This is a retrospective chart and pathology review of 57 consecutive patients with IMPP myopathology and, fo...

Autoimmune response to nuclear and cytoplasmic autoantigens is detected in about 60-80% of patients affected with idiopathic inflammatory myositis such as polymyositis (PM), dermatomyositis (DM) and inclusion body myositis (IBM). Some of the serum autoantibodies are shared with other autoimmune diseases (myositis-associated antibodies MAA) and some of them are unique to myositis (myositis-speci...

Satish Khadilkar Room No 110, New Wing, First ß oor, Bombay Hospital and Medical Research Centre, New Marine Lines, Mumbai, India. E-mail: [email protected] With just over a thousand neurologists catering to the large population of India,[1] neurology consultants find their hands full with the rigors of day-to-day clinical neurology. It is difficult to assimilate the voluminous information on ...

BACKGROUND Multi-minicore disease is a rare form of myopathy characterized by slowly progressive or nonprogressive muscle weakness and characteristic multiple cores within the muscle fibers. To the best of our knowledge, this is first documentation of the clinicopathological features of this rare entity from India. MATERIALS AND METHODS A ll cases of multi-minicore disease diagnosed in our la...

The particular microenvironment of the skeletal muscle can be the site of complex immune reactions. Toll-like receptors (TLRs) mediate inflammatory stimuli from pathogens and endogenous danger signals and link the innate and adaptive immune system. We investigated innate immune responses in human muscle. Analyzing TLR1-9 mRNA in cultured myoblasts and rhabdomyosarcoma cells, we found constituti...