Genetics of neuromuscular diseases

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Authors: S. Voháňka; E. Vlčková; J. Bednařík
Authors place of work: Neurologická klinika LF MU a FN Brno
Published in the journal: Cesk Slov Neurol N 2019; 82(2): 229-235
Category: Neuropatologické okénko
doi: https://doi.org/10.14735/amcsnn2019229

Summary

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Zdroje

1. Echaniz-Laguna A, Mohr M, Lannes B et al. Myopathies in the elderly: a hospital-based study. Neuromuscul Disord 2010; 20(7): 443– 447. doi: 10.1016/ j.nmd.2010.05.003.
2. Straub V, Murphy A, Udd B et al. 229th ENMC international workshop: limb girdle muscular dystrophies - nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. Neuromuscul Disord 2018; 28(8): 702– 710. doi: 10.1016/ j.nmd.2018.05.007.
3. Wattjes MP, Fischer D (eds). Neuromuscular imaging. New York: Springer-Verlag 2013.
4. Jurkat-Rott K, Lehmann-Horn F. Muscle channelopathies and critical points in functional and genetic studies. J Clin Invest 2005; 115(8): 2000– 2009. doi: 10.1172/ JCI25525.
5. Trip J, Drost G, Ginjaar HB et al. Redefining the clinical phenotypes of non-dystrophic myotonic syndromes. J Neurol Neurosurg Psychiatry 2009; 80(6): 647– 652. doi: 10.1136/ jnnp.2008.162396.
6. Braathen GJ, Sand JC, Lobato A et al. Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur J Neurol 2011; 18(1): 39e48.
7. Foley C, Schofield I, Eglon G et al. Charcot-Marie-Tooth disease in Northern England. J Neurol Neurosurg Psychiatry 2012; 83(5): 572– 573. doi: 10.1136/ jnnp-2011-300285.
8. Fridman V, Bundy B, Reilly MM et al. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross--sectional analysis. J Neurol Neurosurg Psychiatry 2015; 86(8): 873– 878. doi: 10.1136/ jnnp-2014-308826.
9. Murphy SM, Laura M, Fawcett K et al. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 2012; 83(7): 706– 710. doi: 10.1136/ jnnp-2012-302451.
10. Ramchandren S. Charcot Marie Tooth and other genetic polyneurpathies. Continuum (Minneap Minn) 2017; 23(5): 1360– 1377. doi: 10.1212/ CON.0000000000000529.
11. Nelis E, Van Broeckhoven C, De Jonghe P et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996; 4(1): 25– 33.
12. Saporta AS, Sottile SL, Miller LJ et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011; 69(1): 22– 33. doi: 10.1002/ ana.22166.
13. Bergamin G, Boaretto F, Briani C et al. Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease. Neuromolecular Med 2014; 16(3): 540– 550. doi: 10.1007/ s12017-014-8307-9.
14. Timmerman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) Disease within the frame of the human genome project success. Genes 2014; 5(1): 13– 32. doi: 10.3390/ genes5010013.
15. Goutman SA. Diagnosis and clinical management of amyotrophic lateral sclerosis and other motor neuron disorders. Continuum (Minneap Minn) 2017; 23(5): 1332– 1359. doi: 10.1212/ CON.0000000000000535.
16. Volk AE, Weishaupt JH, Andersen PM et al. Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis. Med Genet 2018; 30(2): 252–258. doi: 10.1007/ s11825-018-0185-3.
17. Ridzoň P. Kennedyho nemoc (bulbospinální svalová atrofie). Neurol praxi 2016; 17(6): 359– 361.
18. Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve 2015; 51(2): 157– 167. doi: 10.1002/ mus.24497.
19. Mazanec R, Neupauerová J, Baumgartner D et al. Hereditární motorické neuropatie. Neurol praxi 2016; 17(6): 354– 358.
20. Rossor AM, Kalmar B, Greensmith L et al. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry 2012; 83(1): 6– 14. doi: 10.1136/ jnnp-2011-300952.
21. Logroscino G, Traynor BJ, Hardiman O et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry 2010; 81(4): 385– 390. doi: 10.1136/ jnnp.2009.183525.
22. Ludolph AC. Leitlinie Amyotroph(4)e Lateralsklerose (Motoneuronerkrankungen) (2015). In: Deutsche Gesellschaft für Neurologie (Hrsg) Leitlinien für Diagnostik und Therapie in der Neurologie. [online]. Available from URL: https:/ / www.dgn.org/ leitlinien/ 3012-ll-18-ll-amyotrophe-lateralsklerose-motoneuronerkrankungen.
23. Chiò A, Battistini S, Calvo A et al. Genetic counselling in ALS: facts, uncertainties and clinical suggestions. J Neurol Neurosurg Psychiatry 2014; 85(5): 478– 485. doi: 10.1136/ jnnp-2013-305546.