A 27 year old man with intestinal pseudo-obstruction who developed parenteral nutrition induced hyperlipidaemia and who also had ophthalmoplegia and an undifferentiated myopathy is described. Histological examination of biopsy specimens and molecular analysis show that this patient had both familial visceral myopathy and a mitochondrial myopathy, suggesting that a mitochondrial DNA mutation is ...

 Statins are commonly used drugs in the treatment of hyperlipidemia (HL), despite some undesirable side effects. These range from mild symptoms such as myopathy, muscle weakness and myalgia to severe muscle weakness associated with chronic myopathy and acute renal failure (ARF) as a result of rhabdomyolysis. The most serious and deadly side effect of statins is rhabdomyolysis. The case presente...

PURPOSE OF REVIEW Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy is an adult-onset autosomal recessive, slowly progressive and debilitating myopathy due to mutations in the gene that regulates the synthesis of sialic acid. This review aims to update our knowledge of this myopathy and to review studies about pathomechanism and therapeutic strategies. RECENT FINDINGS...

Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. After starting noninvasive ventilation, his pulmonary function test results improved substantially, and over the 4 years since diagnosis his respiratory fun...

This syndrome is a shock-like hyper metabolic myopathy triggered in susceptible animals by stress. Capture myopathy (C.M.) is a commonly occurring condition in mammals following trapping and transportation. In this case 12 to 24 hours after transportation of red deer (Cevus elaphus) and wild goats (Capra ibex) clinical signs such as: muscular tremor, ataxia, recumbency, hyperthermia, tachyca...

P. JANSEN, W. UBACHS, H. L. BETHLEM, Institute for Lasers, Life and Biophotonics, VU University Amsterdam, De Boelelaan 1081, 1081 HV Amsterdam, The Netherlands; I. KLEINER, Laboratoire Interuniversitaire des Systèmes Atmosphériques, CNRS et Universités Paris Diderot et Paris Est, 61 av. Général de Gaulle, 94010, Créteil, France; L-H. XU, Department of Physics and Centre for Laser, Atomic and M...

We report three adolescent patients with osteomalacia who presented initially with clinical features consistent with proximal myopathy. All patients had low serum level of 25 hydroxy vitamin D. Furthermore, radiological investigations confirmed osteomalacia. Myopathy responded well to appropriate treatment of osteomalacia. Possible pathophysiologic explanation of myopathy in patients with osteo...