J. Dupont, J. Guo, J. Gray, A. Buj-Bello, M. Childers, D. Mack September 12, 2017

Despite years of intensive efforts, inherited muscle disorders still represent a significant challenge for the gene therapy community. In large animal models, high systemic doses of recombinant adeno-associated virus (rAAV) are required to achieve phenotype correction, which can be partial and not sustained over time.… Read More...

O. Pogoryelova, P. Cammish, H. Mansbach, H. Lochmüller September 12, 2017

GNE myopathy is an ultra-rare autosomal recessive distal myopathy caused by mutations in the GNE gene. Over 100 disease causing mutations across the gene are currently known. The role of genotype in determining disease severity remains largely unclear. The aim of this study was to analyse clinical outcomes in GNE patients to assess genotype-phenotype correlation.… Read More...

I. Vandersmissen, G. Vander Stichele, V. Biancalana, L. Thielemans September 12, 2017

Centronuclear myopathy (CNM) is a rare disease of inherited neuromuscular disorders, including X-linked CNM (XLCNM), autosomal dominant and recessive CNM, RYR1-related CNM. Review of the epidemiologic reports yielded limited incidence, prevalence and survival rate data. High variability between geographic regions and per disease etiology and severity resulted in limited insights in the current patient population.… Read More...

H. Lochmüller, A. Behin, Y. Caraco, H. Lau, M. Mirabella, I. Tournev, M. Tarnopolsky, O. Pogoryelova, J. Shah, T. Koutsoubos, A. Skrinar, H. Mansbach, E. Kakkis, T. Mozaffar September 12, 2017

GNE Myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a severe progressive adult-onset myopathy caused by bi-allelic mutations of the GNE gene resulting in a defect in the sialic acid biosynthetic pathway. Aceneuramic acid extended release (Ace-ER) is being developed with the goal of replacing the deficient sialic acid.… Read More...

C. Hedberg-Oldfors, K. Visuttijai, A. Topa, M. Tulinius, A. Oldfors September 12, 2017

X-linked recessive myotubular myopathy (XLMTM) usually affects boys and is associated with mutations in the myotubularin gene (MTM1). In this study we describe a family with a severely affected infant boy with a centronuclear myopathy due to unexpected grand paternal transmission of a novel mutation in MTM1 (c.646_648dupGTT; p.Val216dup).… Read More...

M. de Visser, J. De Bleecker, A. Van der Kooi, F. Eftimov, C. Saris, N. Voermans, J. Raaphorst, J. Lim, B. Van Engelen September 12, 2017

Immune-mediated necrotizing myopathy (IMNM) – a rare subtype of myositis – is clinically characterized by subacute onset of proximal muscle weakness. Histologically necrotic muscle fibres are the main finding with no/sparse cell infiltration. Solo treatment with corticosteroids is often insufficient necessitating second-line treatment.… Read More...

J. Coelho, T. Proença Santos, T. Moreno September 12, 2017

X- linked myotubular myopathy (XLMTM) is a rare inherited neuromuscular disorder characterized by weakness, hypotonia, feeding difficulties and respiratory failure presenting at birth. Rarely, symptoms may not present until adolescence. Diagnosis is based on typical histopathological findings in combination with suggestive clinical features and genetic testing confirms the diagnosis.… Read More...

A. Uruha, Y. Allenbach, J. Charuel, L. Musset, A. Aussy, O. Boyer, K. Mariampillai, O. Landon-Cardinal, C. Rasmussen, S. Leonard-Louis, S. Suzuki, I. Nishino, W. Stenzel, O. Benveniste September 12, 2017

Type 1 interferon is regarded as having an important role in the pathogenesis of dermatomyositis (DM). A recent report has shown that sarcoplasmic expression of myxovirus resistance A (MxA), one of the type 1 interferon-inducible proteins, can be used as a diagnostic marker of DM.… Read More...

A. Beggs, B. Byrne, S. de Chastonay, T. Haselkorn, I. Hughes, E. James, N. Kuntz, J. Simon, L. Swanson, M. Yang, Z. Yu, S. Yum, S. Prasad September 12, 2017

XLMTM is a rare, inherited centronuclear myopathy caused by pathogenic variants in the MTM1 gene resulting in severe hypotonia, weakness, respiratory failure, and early mortality. We examined disease burden and unmet medical need in patients with XLMTM from the RECENSUS study.… Read More...

N. Tawara, S. Yamashita, X. Zhang, Z. Zhang, T. Doki, Y. Matsuo, Y. Matsuo, S. Nakane, Y. Maeda, Y. Ando September 12, 2017

Sporadic inclusion body myositis (sIBM) is the most frequent acquired inflammatory myopathy in patients older than 50 years of age. Deficit in protein degradation and mitochondrial function has been suggested to be involved in pathogenesis of sIBM. Although, autoantibodies recognizing cytosolic 5′-Nucleotidase 1A (cN1A) were found in the sera of patients with sIBM, role of the autoantibodies remains unclear.… Read More...

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