![]() ![]() Vdf Hochschulverlag AG der ETH Zürich, Zürich. ![]() Biomolecular simulation: the GROMOS96 manual and user guide. Van Gunsteren WF, Billeter S, Eising A, Hünenberger P, Krüger P, Mark A, et al. GROMOS96 43a1 performance on the characterization of glycoprotein conformational ensembles through molecular dynamics simulations. I-TASSER: a unified platform for automated protein structure and function prediction. RAxML version 8: a tool for phylogenetic analysis and post-analysis of large phylogenies. MUSCLE: multiple sequence alignment with high accuracy and high throughput. Geneious basic: an integrated and extendable desktop software platform for the organization and analysis of sequence data. Kearse M, Moir R, Wilson A, Stones-Havas S, Cheung M, Sturrock S, et al. Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations. Autozygosity mapping with exome sequence data. 2001 29:E88–8.Ĭarr IM, Bhaskar S, O’Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, et al. An efficient procedure for genotyping single nucleotide polymorphisms. Ye S, Dhillon S, Ke X, Collins AR, Day IN. Genetic therapies for inherited neuromuscular disorders. Genome engineering: a new approach to gene therapy for neuromuscular disorders. Nelson CE, Robinson-Hamm JN, Gersbach CA. ![]() Neuromuscular diseases: diagnosis and management. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. 2015 2:73–85.Ĭhae JH, Vasta V, Cho A, Lim BC, Zhang Q, Eun SH, et al. The epidemiology of neuromuscular disorders: a comprehensive overview of the literature. 1991 1:19–29.ĭeenen JC, Horlings CG, Verschuuren JJ, Verbeek AL, van Engelen BG. Population frequencies of inherited neuromuscular diseases-a world survey. Exposure to environmental toxicants and pathogenesis of amyotrophic lateral sclerosis: state of the art and research perspectives. Screening of additional patients with similar phenotype may broaden the allelic and phenotypic spectrum due to DCAF13 variants. Our study indicates a potential role of biallelic DCAF13 variants in neuromuscular disorders. In addition, a heterozygous DCAF13 variant has been associated with autism spectrum disorder. Previously, a heterozygous variant of DCAF13 NM_015420.6, c.20 G > C:p.(Trp7Ser) with or without a heterozygous missense variant in CCN3, was suggested to cause inherited cortical myoclonic tremor with epilepsy. Analysis of DCAF13 with the p.(Asp455Asn) variant predicted that the amino acid change is deleterious and affects a β-hairpin turn, within a WD40 domain of the protein which may decrease protein stability. DCAF13 contains three WD40 domains and is hypothesized to have roles in both rRNA processing and in ubiquitination of proteins. ![]() The variant was extremely rare in the public databases (gnomAD allele frequency 0.000007081) was absent from the DNA of 300 ethnically matched controls and affected an amino acid which has been conserved across 1–2 billion years of evolution in eukaryotes. Exome sequencing was completed on the DNA of three of the four patients. We investigated a consanguineous family in which multiple patients had a neuromuscular disorder characterized by a waddling gait, limb deformities, muscular weakness and facial palsy. Neuromuscular disorders encompass a broad range of phenotypes and genetic causes. ![]()
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