Neuromuscular Disorders

Petya Bogdanova-Mihaylova, Michael D. Alexander, Raymond P. J. Murphy, Sinéad M. Murphy September 6, 2017

Abstract

Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, and Hirschsprung disease.

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Elliot Turkiew, Debbie Falconer, Nicole Reed, Ahmet Höke September 6, 2017

Abstract

Distal axon degeneration seen in many peripheral neuropathies is likely to share common molecular mechanisms with Wallerian degeneration. Although several studies in mouse models of peripheral neuropathy showed prevention of axon degeneration in the slow Wallerian degeneration (Wlds) mouse, the role of a recently identified player in Wallerian degeneration, Sarm1, has not been explored extensively.

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Erik Landfeldt, Peter Lindgren, Michela Guglieri, Volker Straub, Hanns Lochmüller, Katharine Bushby September 6, 2017

The publisher regrets that this article has been temporarily removed. A replacement will appear as soon as possible in which the reason for the removal of the article will be specified, or the article will be reinstated.The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy.… Read More...

Renata Siciliani Scalco, Jasper M. Morrow, Suzanne Booth, Sherryl Chatfield, Richard Godfrey, Ros Quinlivan September 6, 2017

McArdle disease (GSDV) is an autosomal recessive disorder characterised by the absence of muscle glycogen phosphorylase. The enzyme deficit results in impaired muscle metabolism with symptoms such as exercise intolerance and muscle pain beginning in childhood. Muscle pain occurs within a few minutes of starting physical activity and can lead to muscle contracture and rhabdomyolysis (RM) if that activity persists or is more vigorous.… Read More...

Elizabeth Harris, Umar Burki, Chiara Marini-Bettolo, Marcella Neri, Chiara Scotton, Judith Hudson, Marta Bertoli, Teresinha Evangelista, Bas Vroling, Tuomo Polvikoski, Mark Roberts, Ana Töpf, Kate Bushby, Daniel McArthur, Hanns Lochmüller, Alessandra Ferlini, Volker Straub, Rita Barresi September 6, 2017

Heterozygous mutations in the gene STIM1 have been identified as the cause of Stormorken syndrome, a complex phenotype comprising a bleeding diathesis, asplenia, miosis, ichthyosis, and tubular aggregate myopathy [1–4]. In addition heterozygous STIM1 mutations are reported in non-syndromic tubular aggregate myopathies (TAM) with miosis [5–8] and York platelet syndrome (YPS) [9], a thrombocytopenia disorder [9].… Read More...

Carola Hedberg-Oldfors, Kittichate Visuttijai, Alexandra Topa, Mar Tulinius, Anders Oldfors September 6, 2017

X-linked recessive myotubular myopathy (XLMTM; MIM #310400) is a disorder associated with mutations in the myotubularin gene (MTM1) on chromosome Xq28. MTM1 encodes for a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine [1–3]. The disorder ranges from mild to severe, and is characterized by muscle weakness.… Read More...

Leanne M. Ward, Kathi Kinnett, Lynda Bonewald, Parent Project Muscular Dystrophy Bone Health Workshop Collaborators September 6, 2017

A meeting with 48 opinion leaders, research experts and clinicians on Duchenne muscular dystrophy (DMD) bone biology from Canada and USA (15 states/provinces) was held in Bethesda, Maryland, USA from May 12 to May 13, 2016 to discuss the way forward in the research and management of bone health in DMD.… Read More...

Macarena Cabrera-Serrano, Reimar C. Junckerstorff, Ali Alisheri, Alan Pestronk, Nigel G. Laing, Conrad C. Weihl, Phillipa J. Lamont September 6, 2017

Cystinosis is a lysosomal storage disease with an estimated prevalence of 0.5–1 per 100,000 live births [1]. It is a recessive disease with complete penetrance, caused by mutations in CTNS [2]. The product of CTNS is cystinosin, a ubiquitously expressed lysosomal transporter.… Read More...

Eduardo F. Tizzano, Richard S. Finkel September 6, 2017

The range of phenotypes observed within classic spinal muscular atrophy (SMA) represents a continuum of one genetically defined disease, from very weak infants to ambulant children and adults. Various eponyms, terminology and classification schemes evolved in the century following Werdnig’s and Hoffmann’s early reports in the late nineteenth century, as the full expression of the disorder was identified [1].… Read More...

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