M. Cabrera-Serrano, E. Rivas-Infante, F. Mavillard, B. Morar, D. Comas, A. Carvajal, R. Avila, N. Muelas, M. Olive, J. Diaz, E. Verges, N. Romero, J. Laporte, J. Vilchez, N. Laing, L. Kalaydjieva, C. Paradas September 12, 2017

BIN1 mutations are a rare cause of dominant and recessive centronuclear myopathies. We have identified a founder BIN1 c.700C T (p.C234R) mutation in the gypsy Spanish population present in 13 patients with autosomal recessive centronuclear myopathy belonging to 8 families from Andalucía (10p), Valencia (2p) and Cataluña (1p).… Read More...

K. Mariampillai, B. Granger, M. Guiguet, D. Amelin, J. Charuel, L. Musset, Y. Allenbach, O. Benveniste September 12, 2017

The idiopathic inflammatory myopathies (or myositis) are a group of autoimmune diseases and heterogeneous in their pathophysiology and prognosis. The emergence of new biomarkers, such as myositis specific autoantibodies (MSA) seems to define more homogeneous subgroups of patients. The main objective was to propose a new unsupervised classification of IIM based on phenotypical, biological and immunological.… Read More...

J. Domingues, T. Rosa, C. Iwabe-Marchese., C. Martins, A. Martinez, L. Queiroz, B. Pfeilsticker., M. França, A. Nucci September 12, 2017

Electromyography (EMG) is a useful ancillary test in the diagnosis of neuromuscular disorders. EMG patterns may be helpful to identify specific types of inherited muscle disease. To describe clinical and EMG profile of patients with centronuclear myopathy (CNM) from a tertiary university hospital.… Read More...

J. Zamecnik, H. Storkanova, O. Krystufkova, M. Klein, H. Mann, L. Vernerova, M. Spiritovic, L. Senolt, J. Vencovsky, M. Tomcik September 12, 2017

Heat shock proteins (Hsp) are chaperones playing important roles in skeletal muscle physiology, adaptation to exercise or stress, and activation of inflammatory cells. The aim of our study was to assess Hsp90 expression in muscle biopsies and plasma of patients with idiopathic inflammatory myopathies (IIM) and to characterize its association with IIM-related features.… Read More...

A. Toscano, V. Emmanuele, M. Savarese, O. Musumeci, A. Torella, E. Conca, M. Moggio, V. Nigro, C. Rodolico September 12, 2017

Congenital myopathies are a clinical and genetic heterogeneous group of early onset muscle diseases. Mutations in HACD1 gene cause congenital centronuclear myopathy in dogs and have also been recently described in one consanguineous Bedouin family with congenital myopathy that improved with age.… Read More...

T. Kurashige, N. Sumi, T. Kanbara, M. Ohta, T. Sugiura, H. Maruyama, T. Torii September 12, 2017

Idiopathic inflammatory myopathies (IIM) are classified in five categories including polymyositis (PM), dermatomyositis (DM), immune-mediated necrotizing myopathy (IMNM), inclusion body myositis (IBM), and non-specific myositis. Muscle pathologies are required elements for the classification of IIM. In addition to the pathological patterns, more than 15 autoantibodies specific for myositis are already recognized.… Read More...

N. Danièle, C. Bogni, L. Julien, A. Piet, A. Vignaud, A. Buj-Bello September 12, 2017

Centronuclear myopathies are a group of inherited congenital disorders characterized by generalized muscle weakness and common histopathology typified by central positioning of the myonuclei and myofibers hypotrophy. These pathologies are caused by mutations in at least 5 genes, MTM1, DNM2, BIN1, RYR1 and TTN, some of which may be involved in common pathophysiological pathways.… Read More...

S. Buono, C. Kretz, C. Koch, A. Robé, S. Guo, B. Monia, J. Laporte, L. Thielemans, B. Cowling September 12, 2017

Centronuclear myopathies (CNM) are non-dystrophic muscle diseases for which no effective therapy is currently available. The most severe form, X-linked CNM, is caused by myotubularin 1 (MTM1) loss-of-function mutations, while the main autosomal dominant form is due to dynamin2 (DNM2) mutations.… Read More...

M. Wencel, N. Goyal, T. Mozaffar September 12, 2017

Late-onset Pompe disease (LOPD) is an inherited lysosomal storage disease, in which the enzyme acid alpha-glucosidase (GAA) is deficient. It is characterized by proximal limb-girdle muscle weakness and respiratory insufficiency. The disease is progressive, and if left untreated, may result in significant motor disability and respiratory failure.… Read More...

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