Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature
Alberto A. Zambon,Maria Grazia Natali Sora,Giovanna Cantarella,Federica Cerri,Angelo Quattrini,Giancarlo Comi,Stefano C. Previtali,Alessandra Bolino +7 more
TLDR
Vocal cord paralysis is a relevant symptom of Charcot–Marie–Tooth type 4B1 and patients harboringMTMR2 mutations should be investigated for laryngeal function, and a new mutation in the MTMR2 gene is described.About:
This article is published in Neuromuscular Disorders.The article was published on 2017-05-01 and is currently open access. It has received 13 citations till now. The article focuses on the topics: Vocal cord paralysis.read more
Citations
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ADDENDUM TO: Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy
TL;DR: With 16% of patients affected in this series, this study demonstrates that TRPV4 mutations are a major cause of inherited axonal neuropathy associated with a large spectrum of additional features.
Journal ArticleDOI
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
Holger Hengel,Rebecca Buchert,Marc Sturm,Tobias B. Haack,Yvonne Schelling,Muhammad Mahajnah,Muhammad Mahajnah,Rajech Sharkia,Abdussalam Azem,Ghassan Balousha,Zaid Ghanem,Mohammed Falana,Osama Balousha,Suhail Ayesh,Reinhard Keimer,Werner Deigendesch,Jimmy Zaidan,Hiyam Marzouqa,Peter Bauer,Ludger Schöls +19 more
TL;DR: Analyzing the runs of homozygosity (ROHs) derived from the Exome sequencing data as a marker for the rate of inbreeding, revealed significantly longer ROHs in the included families compared with a German control cohort, which has proven to be ideal for prioritization of new disease genes.
Journal ArticleDOI
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Davide Pareyson,Tanya Stojkovic,Mary M. Reilly,Sarah Leonard-Louis,Matilde Laura,Julian Blake,Julian Blake,Yesim Parman,Esra Battaloglu,Meriem Tazir,Mounia Bellatache,Nathalie Bonello-Palot,Nicolas Lévy,Sabrina Sacconi,Raquel Guimarães-Costa,S. Attarian,Philippe Latour,Guilhem Solé,André Mégarbané,Rita Horvath,Rita Horvath,Giulia Ricci,Giulia Ricci,Byung Ok Choi,Angelo Schenone,Chiara Gemelli,Alessandro Geroldi,Mario Sabatelli,Mario Sabatelli,Marco Luigetti,Marco Luigetti,Lucio Santoro,Fiore Manganelli,Aldo Quattrone,Paola Valentino,Tatsufumi Murakami,Steven S. Scherer,Lois Dankwa,Michael E. Shy,Chelsea Bacon,David N. Herrmann,Alberto A. Zambon,Irene Tramacere,Chiara Pisciotta,Stefania Magri,Stefano C. Previtali,Alessandra Bolino +46 more
TL;DR: A multicenter, retrospective study to better characterize CMT4B, which shows a more heterogeneous phenotype and is associated with myotubularin‐related protein (MTMR) mutations.
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Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking
Haicui Wang,Ayşe Kaçar Bayram,Rosanne Sprute,Özkan Özdemir,Emily Cooper,Matthias Pergande,Stephanie Efthymiou,Ivana Nedic,Neda Mazaheri,Katharina Stumpfe,Reza Azizi Malamiri,Gholamreza Shariati,Jawaher Zeighami,Nurettin Bayram,Seyed Kianoosh Naghibzadeh,Mohamad Tajik,Mehmet Yaşar,Ahmet Guven,Farah Bibi,Tipu Sultan,Vincenzo Salpietro,Henry Houlden,Hüseyin Per,Hamid Galehdari,Bita Shalbafan,Yalda Jamshidi,Sebahattin Cirak +26 more
TL;DR: It is proved that the regulation of expression of these proteins involved in the membrane remodeling pathway may compensate each other's loss- or gain-of-function mutations by restoring the phosphoinositides equilibrium.
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Surgical Management of Bilateral Vocal Fold Paralysis in Children: A Systematic Review and Meta-analysis:
TL;DR: For children who receive a tracheostomy as their first intervention for BVFP, GWS is associated with a significantly improved rate of decannulation, and these data demonstrated no differences in surgical outcomes among the most common types of GWS for BvFP.
References
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Journal ArticleDOI
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
Alessandra Bolino,Maria Muglia,Francesca Luisa Conforti,Eric LeGuern,Mustafa A. Salih,Domna Maria Georgiou,Kyproula Christodoulou,Irena Hausmanowa-Petrusewicz,Paola Mandich,Angelo Schenone,Antonio Gambardella,F. Bono,Aldo Quattrone,Marcella Devoto,Anthony P. Monaco +14 more
TL;DR: Using a positional-cloning strategy, mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP) are identified in unrelated CMT4B patients.
Journal ArticleDOI
The phenotypic manifestations of chromosome 17p11.2 duplication.
P. K. Thomas,Wilson Marques,Mary B. Davis,MG Sweeney,Rosalind H.M. King,J. L. Bradley,J. R. Muddle,J. Tyson,S. Malcolm,A. E. Harding +9 more
TL;DR: It is concluded that the possession of two copies of the peripheral myelin protein 22 gene within the duplicated region on chromosome 17p gives rise to a range of phenotypes and not solely to a CMT syndrome, and that the pattern of histological change in the peripheral nerves alters with advance of the disease.
Journal ArticleDOI
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis
Peter J. Dyck,Peter J. Dyck,William J. Litchy,Sharon Minnerath,Thomas D. Bird,Phillip F. Chance,Daniel J. Schaid,Arnold E. Aronson +7 more
TL;DR: Two kindreds with an autosomal dominant inherited disorder characterized by a variable degree of muscle weakness of limbs, vocal cords, and intercostal muscles and by asymptomatic sensory loss, beginning in infancy or childhood in severely affected persons are described.
Journal ArticleDOI
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology
TL;DR: How myotubularins regulate such diverse processes including cell proliferation and differentiation, autophagy, cytokinesis, and cytoskeletal and cell junction dynamics is discussed.
Journal ArticleDOI
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.
J. Tyson,D. Ellis,U. Fairbrother,Rosalind H.M. King,Francesco Muntoni,J. Jacobs,S. Malcolm,A. E. Harding,P. K. Thomas +8 more
TL;DR: It is concluded that hereditary demyelinating peripheral neuropathy of infancy is genetically heterogeneous and mutational screening for the PMP22 and P0 genes and nerve biopsy are therefore merited in patients with a childhood demyELinating neuropathy that is more severe than usual and in whom a chromosome 17 duplication is not present.