Neuromuscular Disorders

J.M. Pardal-Fernández, M.C. Carrascosa-Romero, S. Álvarez, M.C. Medina-Monzón, M. Bengoa Caamaño, C. de Cabo July 7, 2018

Congenital myasthenic syndromes (CMS) constitute a heterogeneous group of genetically determined diseases caused by alterations in some of the ultrastructural proteins of the neuromuscular synapse. The CMS associated with an altered protein in the presynaptic component account for 6-8% of all cases reported.… Read More...

Annarita Ghosh Andersen, Freja Fornander, Henrik Daa Schrøder, Thomas Krag, Volker Straub, Morten Duno, John Vissing July 7, 2018

Myofibrillar myopathies encompass a group of morphologically distinct and genetically heterogeneous myopathies, characterized by degeneration of the myofibrillar structures, often including Z-disc streaming, accumulation of degraded filamentous material and vacuoles in the muscle fibers. Different disease-causing mutations in genes coding for proteins related to the Z-disc have been described, including desmin (DES), αB-chrystallin, myotilin (MYOT), Z-band alternatively spliced PDZ containing protein (ZASP), filamin-C (FLNC), plectin and Bcl-2 associated athanogene 3 (BAG3).… Read More...

Kan N. Hor, May Ling Mah, Pace Johnston, Timothy P. Cripe, Linda H. Cripe July 7, 2018

Duchenne muscular dystrophy (DMD) is a systemic X-linked disorder with an incidence of 10.7 to 27.8 per 100,000 [1]. The disease results from a mutation in the gene for the dystrophin protein resulting in progressive muscle necrosis, apoptosis and fibrosis. Muscle cell destruction directly affects many organ systems resulting in loss of ambulation, respiratory failure, heart failure and premature death [2,3].… Read More...

Volker Straub, Eugenio Mercuri June 7, 2018

With the rapid increase in the number of interventional clinical trials in Duchenne muscular dystrophy (DMD) over the past few years, the need for a frank and honest discussion between those designing and using outcome measures has never been greater. In January 2017 clinicians, physiotherapists, imaging experts and patient advocacy group representatives came together for a two day workshop at The Foundry in London, UK, for a critical review of the different clinical outcome measures used to date in natural history studies and interventional trials for DMD.… Read More...

Marika Pane, Concetta Palermo, Sonia Messina, Valeria A Sansone, Claudio Bruno, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D'Amico, Giorgia Brigati, Roberto de Sanctis, Giorgia Coratti, Simona Lucibello, Enrico Bertini, Giuseppe Vita, Francesco Danilo Tiziano, Eugenio Mercuri, Italian EAP working group June 2, 2018

In the last few years two Phase 3 sham-controlled studies using Nusinersen, an antisense oligonucleotide designed to increase full-length SMN protein levels and gene replacement, have shown significant improvements on motor functional scales in both infantile and late onset SMA [1,2].… Read More...

Yılmaz Yıldız, Rikke Katrine Jentoft Olsen, Hatice Serap Sivri, Zuhal Akçören, Helle Highland Nygaard, Ayşegül Tokatlı May 31, 2018

Vitamin B2, or riboflavin, is the precursor of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which serve as cofactors of flavoproteins, or flavoenzymes, that are involved in multiple cellular processes, including mitochondrial respiratory chain and degradation of fatty acids, some amino acids and choline, among others [1].… Read More...

Binghao Wang, Xiaobo Li, Junpu Wang, Lei Liu, Yongzhi Xie, Shunxiang Huang, Pakhrin Pukar Singh, Qingwen Jin, Chunmei Zhu, Beisha Tang, Qi Niu, Ruxu Zhang May 26, 2018

Mutations in the AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) gene on Xq26.1 have been associated with multiple clinical phenotypes [1-4], including X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX4; MIM #310490) [5, 6], mitochondrial encephalomyopathy (COXPD6; MIM#300816) [3, 7], spondyloepimetaphyseal dysplasia with mental retardation (SEMD-MR; MIM#300232) [2], auditory neuropathy spectrum disorder (ANSD; MIM#300614) [8, 9].… Read More...

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