U. Yiş, K. Becker, S. Kurul, G. Uyanik, E. Bayram, G. Haliloglu, I. Polat, M. Ayanoglu, D. Okur, A. Tosun, G. Serdaroglu, S. Yılmaz, H. Topaloğlu, B. Anlar, S. Cirak, A. Engel September 12, 2017

Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, we report on cases with genetically proven CMS from Turkey.… Read More...

K. Amburgey, S. Hewson, C. Hum, M. Glueck, N. Sultanum, M. Girdea, M. Brudno, C. Bönnemann, J. Dastgir, R. Amin, O. Mayer, A. Constantinescu, F. Syed, T. Tran, M. Jain, L. Nelson, A. Beggs, C. Genetti, M. Lawlor, J. Dowling September 12, 2017

Nemaline myopathy (NM) is characterized by weakness, hypotonia and respiratory distress due to mutations in at least 12 genes with various inheritance patterns. Currently, no treatment exists. This study represents the first longitudinal examination of NM patients, providing a more accurate estimate of the rate of change and a more precise documentation of the clinical phenotype.… Read More...

M. Rugiero, H. Gonorazky, M. Bettini, M. Saccoliti, X. Lornage, J. Böhm, J. Laporte, N. Romero, A. Taratuto September 12, 2017

Most congenital myashtenic syndrome (CMS) are caused by defects in endplate (EP)-specific proteins. Recently proteins distributed in many tissues, namely plectin, GFPT1, and DPAGT1, are also CMS targets. Both GFPT1 and DPAGT1 are involved in glycosylation and mutations in either protein result in limb-girdle myasthenia with tubular aggregates(TA) in type 2 muscle fibres.… Read More...

A. Nascimento, C. Ortez, D. Natera, A. Frongia, M. Alarcon, D. Itzep, C. Jou, A. Codina, J. Corbera, C. Jimenez – Mallebrera, M. Rodriguez, L. González, P. Gallano, J. Colomer September 12, 2017

Mutations in guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) can result in muscular dystrophy variants with hypoglycosylated alfa-dystroglycan. The firsts patients described with defects in this gene showed a broad phenotypic spectrum ranging from congenital muscle weakness, eye and brain structural abnormalities and intellectual delay to adult-onset limb-girdle muscular dystrophies without mental retardation.… Read More...

E. Malfatti, N. Voermans, B. Kusters, J. De, G. Brochier, A. Madelaine, M. Lammens, B. Van, C. Ottenheijm, N. Romero September 12, 2017

KBTBD13 myopathy (NEM6) is a rare autosomal dominant congenital myopathy characterized by early onset axial and proximal muscle weakness, poor exercise tolerance, and characteristic slowness of movements. Muscle biopsy analyses revealed the presence of numerous rods and unstructured cores, associated with type 1 fiber hypertrophy and type 2 atrophy.… Read More...

A. Bamaga, M. Al-Lozi, C. Weihl September 12, 2017

Agrin is a large heparan sulfate proteoglycan that is generated by alternative RNA splicing resulting in different isoforms in different tissues. Agrin is encoded by the gene AGRN and is essential for neuromuscular synapse formation. Agrin promotes synaptic differentiation by signaling to a receptor complex that consists of muscle-specific receptor tyrosine kinases (MuSK) and low density lipoprotein receptor related protein 4 (Lrp4).… Read More...

J. Bevilacqua, E. Malfatti, C. Labasse, G. Brochier, A. Madelaine, E. Lacene, J. Rendu, B. Doray, J. de Monredon, P. Laforêt, B. Eymard, M. Fardeau, N. Romero September 12, 2017

Nemaline myopathies (NM) comprehend a heterogeneous group of rare congenital muscle conditions characterised by hypotonia, muscle weakness, skeletal deformities with nemaline bodies (rods) in muscle biopsy. Here we describe four NM patients with distinctive hyaline masses in the muscle biopsy in addition to the typical NM histological features.… Read More...

N. Mc Sweeney, M. Carter, A. Greene, O. O Mahony, B. Lynch September 12, 2017

Many clinical features of centronuclear myopathies (CNM) are common to congenital myasthenia syndromes (CMS). There are recent suggestions that the NMJ could have a significant role in the pathophysiology of centronuclear myopathy. Previously published case studies have shown improved strength in CNM patients with acetylcholinesterase inhibitor treatment.… Read More...

Andoird App
Loading...