Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no current therapies. Myotubular myopathy was the first described of a growing list of conditions caused by mutations in proteins implicated in membrane traffic...

background recently, several reports issued clevudine induced myopathy in the long term use. objectives the aim of this study was to investigate antiviral effects and adverse events of clevudine monotherapy in patients with chronic hepatitis b (chb). patients and methods the subjects were 110 treatment-naïve chb patients. they were treated with 30 mg clevudine/day for more than six months. viro...

OBJECTIVE To characterize the clinical course of myopathy associated with antibodies to signal recognition particle (SRP), or anti-SRP myopathy. DESIGN Case series. SETTING Keio University Hospitals and National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan. PATIENTS We reviewed clinical features of 27 patients with anti-SRP myopathy and analyzed dis...

Myopathy of insidious onset produced by corticosteroids is well recognised. In recent years acute myopathy has been reported in patients with acute severe asthma treated with 3-4 g of intravenous hydrocortisone a day.1 2 It has been argued that to minimise the risks of this the dose should be no more than 1 g of hydrocortisone a day.2 There is evidence that 1 g/day is an effective regimen.3 We ...

Enzymatic and histological features of muscular disorders associated with primary aldosteronism and glycyrrhizine-induced pseudoaldosteronism were studied. Among 10 patients with primary aldosteronism and 3 patients with pseudoaldosteronism, 5 patients were admitted to our hospital because of muscular weakness. The serum potassium (K) level was 1.86 +/- 0.21 mEq/l in a myopathy group on admissi...

In chronic heart failure (HF) from systolic cardiac dysfunction, the degree of exercise intolerance is not directly related to the degree of cardiac weakness.1–5 Somewhat surprisingly symptoms that typify HF, including shortness of breath and fatigue, are often directly related to the abnormalities of the skeletal musculature in HF. Our understanding of the features of skeletal myopathy is evol...

Statins lower cholesterol by inhibiting 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, the rate-limiting enzyme in the biosynthesis of cholesterol. However, severe adverse events, including myalgias and rhabdomyolysis, have been reported with statin treatment. Different mechanisms have been proposed to explain statin-induced myopathy, including reduction of mevalonate pathway produc...

Centronuclear myopathy is a lethal muscle disease. The most severe form of the disease, X-linked centronuclear myopathy, is due to mutations in the gene encoding myotubularin (MTM1), while mutations in dynamin 2 (DNM2) and amphiphysin 2/BIN1 (AMPH2) cause milder forms of myopathy. MTM1 is a lipid phosphatase, and mutations that disrupt this activity cause severe muscle wasting. In this issue of...

Anti-SRP myopathy represents 4 to 6% of all the inflammatory myopathies. It has been described since the 80s and its influence on pregnancy and vice versa has been highlighted recently. We report two cases of anti-SRP myopathy associated with pregnancy. In the first case, the initial manifestations of the disease started in post partum and the second case was an anti-SRP myopathy patient before...