A. Sarkozy, I. Zaharieva, A. Nasca, C. Scotton, R. Selvatici, M. Neri, O. Magnusson, A. Gal, D. Weaver, A. Armaroli, M. Pane, G. Hajnóczky, C. Sewry, R. Phadke, A. Donati, E. Mercuri, M. Zeviani, F. Muntoni, D. Ghezzi, A. Ferlini September 12, 2017

We report on the first two families with recessive mutations in the MSTO1 gene. The proband from family 1, second child of non consanguineous parents, presented at the age of one year with motor delay. At age 7 years he shows predominantly limb girdle muscle weakness, ataxia and cerebellar hypoplasia, in particular of vermis.… Read More...

R. Fernandez Torron, E. Harris, J. Bourke, K. Bettinson, H. Hilsden, S. Spuler, J. Day, K. Jones, D. Bharucha-Goebel, E. Salort-Campana, A. Pestronk, M. Walter, C. Paradas, T. Stojkovic, M. Mori-Yoshimura, E. Bravver, J. Diaz-Manera, E. Pegoraro, J. Mendell, K. Bushby, V. Straub September 12, 2017

Dysferlinopathies are muscular dystrophies due to recessive mutations in the DYSF gene, and are not traditionally considered to cause cardiac dysfunction. However, occasional reports of patients having left ventricular dysfunction raise the possibility of dysferlinopathy associated cardiomyopathy. We sought to evaluate the frequency of cardiac test abnormalities in patients participating in the international multicentre clinical outcome study of dysferlinopathy.… Read More...

M. Malicdan, T. Vilboux, B. Ben-Zeev, J. Guo, A. Eliyahu, B. Pode-Shakked, A. Dori, S. Kakani, S. Chandrasekharappa, C. Ferreira, N. Shelestovich, D. Marek-Yagel, H. Pri-Chen, I. Blat, J. Niederhuber, C. Toro, J. Deeken, T. Yardeni, D. Wallace, W. Gahl, Y. Anikster September 12, 2017

Primary coenzyme Q10 (CoQ10) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a dozen genes are involved in the biosynthesis of CoQ10, and mutations in several of these are associated with human disease. However, mutations in COQ5, catalyzing the only C-methylation in the CoQ10 synthetic pathway, have not been implicated in human disease.… Read More...

A. Behin, T. Mozaffar, M. Tarnopolsky, T. Gidaro, O. Pogoryelova, J. Shah, S. Krolczyk, T. Koutsoukos, I. Tournev, H. Lochmüller 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. To understand the clinical presentation and progression of GNEM.… Read More...

S. Donkervoort, J. Müller, E. Knierim, D. Bharucha-Goebel, S. Dyack, D. Burns, Y. Hu, L. Baker, D. Ezzo, M. Scavina, A. Foley, M. Schülke, M. Schülke, C. Bönnemann September 12, 2017

The exosome is essential for RNA metabolism via degradation of unstable AU-rich elements containing mRNAs. Mutations in EXOSC3 and EXOSC8, coding for core exosome subunits, and RBM7, coding for an exosomal-related protein, result in abnormal RNA metabolism, manifesting as spinal muscular atrophy, demyelination of the central nervous system and pontocerebellar hypoplasia (PCH1).… Read More...

S. Lassche, A. Rietveld, A. Heerschap, J. Van Hees, M. Hopman, C. Saris, N. Voermans, B. Van Engelen, C. Ottenheijm September 12, 2017

Inclusion body myositis (IBM) is the most common acquired muscle disorder in adults over 50 years old. It is characterized by progressive muscle weakness and marked muscle atrophy, most prominent in the finger flexors and quadriceps muscle. In addition to atrophy, fatty replacement of muscle tissue contributes to clinical muscle weakness and functional decline.… Read More...

V. Bolduc, A. Foley, S. Donkervoort, Y. Hu, B. Cummings, M. Lek, A. Sarathy, K. Sizov, H. Degefa, R. Wagener, G. Hennig, E. Hanssen, S. Lamande, F. Muntoni, S. Wilton, D. MacArthur, C. Bönnemann September 12, 2017

Collagen VI-related dystrophies (COL6-RD) are a group of frequently severe, congenital-onset neuromuscular disorders with no effective treatment. Our group has recently identified a new, and unexpectedly common, de novo deep-intronic mutation in intron 11 of the collagen 6 alpha 1 (COL6A1) gene (c.930 + 189C T), associated with severe clinical manifestations.… Read More...

A. Van der Gucht, M. Abulizi, M. Aoun-Sebati, E. Itti, F. Authier September 12, 2017

Positron emission tomography with 18F-fluorodeoxyglucose (FDG-PET) appears to be efficient to identify a cerebral substrate in patients with known macrophagic myofasciitis (MMF). We present here the case of a patient referred for diffuse arthromyalgias and cognitive impairment, which occurred few years after aluminium hydroxide-adjuvanted vaccine injections.… Read More...

K. Carroll, J. McGinley, K. Paterson, M. Ryan, R. Kennedy September 12, 2017

Children and adolescents with Charcot-Marie-Tooth disease (CMT) report frequent falls. Falls are a natural part of growth and development in childhood; but what is typical? There are no longitudinal studies of falls in children with CMT or typically developing children (TD).… Read More...

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