Three cases of hypophosphataemic osteomalacia presenting in adult life, in which a myopathy was a prominent presenting feature, are described. In one, a nasopharyngeal haemangioma was also present. Possible mechanisms underlying the myopathy are discussed briefly.

Statins are widely used drugs to lower cholesterol levels and to reduce the risk of cardiovascular disease. However, it has been reported that statins are associated with adverse side effects of skeletal myopathy. Statin treatment can impair mitochondrial function and induce apoptosis in skeletal muscle in both human and animal models. Ubiquinone plays an essential role in transferring electron...

Heart disease (HD) is the number one killer in the United States.(1) In 2006, the direct and indirect costs associated with cardiovascular disease in the United States were estimated at 400 billion dollars.(2) Statin therapy for cholesterol reduction is a mainstay intervention for cardiovascular disease (CVD) as reflected in atorvastatin's status as the number one prescribed medication in the U...

BACKGROUND Nemaline myopathy-the most common non-dystrophic congenital myopathy-is caused by mutations in thin filament genes, of which the nebulin gene is the most frequently affected one. The nebulin gene codes for the giant sarcomeric protein nebulin, which plays a crucial role in skeletal muscle contractile performance. Muscle weakness is a hallmark feature of nemaline myopathy patients wit...

We report two opposite-sex siblings with the severe infantile form of nemaline myopathy; diagnoses were made on muscle biopsy. Neither parent showed clinical or electromyographic evidence of myopathy, and both had negative muscle biopsies. Autosomal recessive inheritance seems likely.

how to cite this article: nilipor y, shariatmadari f, abdollah gorji f, rouzrokh m, ghofrani m, karimzadeh p, taghdiri mm,  delavarkasmaei h, ahmadabadi f, bakhshandeh bali mk, nemati h, saket s, jafari n, yaghini o, tonekaboni sh.  evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals. iran j child neurol. 2013 spring;7(2):17-21.   obje...

Although not initially recognized when there were few long-term survivors with cystinosis, the use of renal transplantation in the 1960s permitted observation of a number of additional clinical disabilities, as patients with nephropathic cystinosis survived past young childhood for the first time. Among these, serious distal myopathy has emerged as a significant problem of early adulthood in un...

Apoptotic cell death of differentiated skeletal muscle has been reported in an experimental steroidinduced myopathy of rats. To investigate the underlying molecular changes in the apoptosis of skeletal muscle, in situ end labeling (ISEL), Fas expression, and Western blot analysis for apoptosis-related proteins in the soleus muscle of triamcinolone acetonide (TA)-induced myopathy of rats were st...

Mutations in the gene encoding skeletal muscle alpha-actin (ACTA1) account for approx. 20% of patients with the muscular disorder nemaline myopathy. Nemaline myopathy is a muscular wasting disease similar to muscular dystrophy, but distinguished by deposits of actin and actin-associated proteins near the z-line of the sarcomere. Approx. one-third of the over 140 myopathy actin mutations have be...