Diagnostics in skeletal muscle channelopathies
Skeletal muscle channelopathies (SMCs) are a heterogenous group of disorders, caused by mutations in skeletal ion channels leading to abnormal muscle excitability, resulting in either delayed muscle relaxation (myotonia) which characterizes non-dystrophic myotonias (NDMs), or membrane transient inac...
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| Vydáno v: | Expert review of molecular diagnostics Ročník 23; číslo 12; s. 1175 - 1193 |
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| Médium: | Journal Article |
| Jazyk: | angličtina |
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England
02.12.2023
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| ISSN: | 1473-7159, 1744-8352, 1744-8352 |
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| Abstract | Skeletal muscle channelopathies (SMCs) are a heterogenous group of disorders, caused by mutations in skeletal ion channels leading to abnormal muscle excitability, resulting in either delayed muscle relaxation (myotonia) which characterizes non-dystrophic myotonias (NDMs), or membrane transient inactivation, causing episodic weakness, typical of periodic paralyses (PPs).
SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, and hyper-normokalemic, hypokalemic, or late-onset periodic paralyses among PPs. When suspecting an SMC, a structured diagnostic approach is required. Detailed personal and family history and clinical examination are essential, while neurophysiological tests should confirm myotonia and rule out alternative diagnosis. Moreover, specific electrodiagnostic studies are important to further define the phenotype of de novo cases and drive molecular analyses together with clinical data. Definite diagnosis is achieved through genetic testing, either with Sanger sequencing or multigene next-generation sequencing panel. In still unsolved patients, more advanced techniques, as exome-variant sequencing or whole-genome sequencing, may be considered in expert centers.
The diagnostic approach to SMC is still mainly based on clinical data; moreover, definite diagnosis is sometimes complicated by the difficulty to establish a proper genotype-phenotype correlation. Lastly, further studies are needed to allow the genetic characterization of unsolved patients. |
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| AbstractList | Skeletal muscle channelopathies (SMCs) are a heterogenous group of disorders, caused by mutations in skeletal ion channels leading to abnormal muscle excitability, resulting in either delayed muscle relaxation (myotonia) which characterizes non-dystrophic myotonias (NDMs), or membrane transient inactivation, causing episodic weakness, typical of periodic paralyses (PPs).
SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, and hyper-normokalemic, hypokalemic, or late-onset periodic paralyses among PPs. When suspecting an SMC, a structured diagnostic approach is required. Detailed personal and family history and clinical examination are essential, while neurophysiological tests should confirm myotonia and rule out alternative diagnosis. Moreover, specific electrodiagnostic studies are important to further define the phenotype of de novo cases and drive molecular analyses together with clinical data. Definite diagnosis is achieved through genetic testing, either with Sanger sequencing or multigene next-generation sequencing panel. In still unsolved patients, more advanced techniques, as exome-variant sequencing or whole-genome sequencing, may be considered in expert centers.
The diagnostic approach to SMC is still mainly based on clinical data; moreover, definite diagnosis is sometimes complicated by the difficulty to establish a proper genotype-phenotype correlation. Lastly, further studies are needed to allow the genetic characterization of unsolved patients. Skeletal muscle channelopathies (SMCs) are a heterogenous group of disorders, caused by mutations in skeletal ion channels leading to abnormal muscle excitability, resulting in either delayed muscle relaxation (myotonia) which characterizes non-dystrophic myotonias (NDMs), or membrane transient inactivation, causing episodic weakness, typical of periodic paralyses (PPs).INTRODUCTIONSkeletal muscle channelopathies (SMCs) are a heterogenous group of disorders, caused by mutations in skeletal ion channels leading to abnormal muscle excitability, resulting in either delayed muscle relaxation (myotonia) which characterizes non-dystrophic myotonias (NDMs), or membrane transient inactivation, causing episodic weakness, typical of periodic paralyses (PPs).SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, and hyper-normokalemic, hypokalemic, or late-onset periodic paralyses among PPs. When suspecting an SMC, a structured diagnostic approach is required. Detailed personal and family history and clinical examination are essential, while neurophysiological tests should confirm myotonia and rule out alternative diagnosis. Moreover, specific electrodiagnostic studies are important to further define the phenotype of de novo cases and drive molecular analyses together with clinical data. Definite diagnosis is achieved through genetic testing, either with Sanger sequencing or multigene next-generation sequencing panel. In still unsolved patients, more advanced techniques, as exome-variant sequencing or whole-genome sequencing, may be considered in expert centers.AREAS COVEREDSMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, and hyper-normokalemic, hypokalemic, or late-onset periodic paralyses among PPs. When suspecting an SMC, a structured diagnostic approach is required. Detailed personal and family history and clinical examination are essential, while neurophysiological tests should confirm myotonia and rule out alternative diagnosis. Moreover, specific electrodiagnostic studies are important to further define the phenotype of de novo cases and drive molecular analyses together with clinical data. Definite diagnosis is achieved through genetic testing, either with Sanger sequencing or multigene next-generation sequencing panel. In still unsolved patients, more advanced techniques, as exome-variant sequencing or whole-genome sequencing, may be considered in expert centers.The diagnostic approach to SMC is still mainly based on clinical data; moreover, definite diagnosis is sometimes complicated by the difficulty to establish a proper genotype-phenotype correlation. Lastly, further studies are needed to allow the genetic characterization of unsolved patients.EXPERT OPINIONThe diagnostic approach to SMC is still mainly based on clinical data; moreover, definite diagnosis is sometimes complicated by the difficulty to establish a proper genotype-phenotype correlation. Lastly, further studies are needed to allow the genetic characterization of unsolved patients. |
| Author | Brugnoni, Raffaella Maggi, Lorenzo Vicino, Alex |
| Author_xml | – sequence: 1 givenname: Alex surname: Vicino fullname: Vicino, Alex organization: Neurology IV Unit, Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy, Nerve-Muscle Unit, Neurology Service, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland – sequence: 2 givenname: Raffaella orcidid: 0000-0003-1365-4508 surname: Brugnoni fullname: Brugnoni, Raffaella organization: Neurology IV Unit, Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy – sequence: 3 givenname: Lorenzo surname: Maggi fullname: Maggi, Lorenzo organization: Neurology IV Unit, Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/38009256$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1002/mus.23683 10.1073/pnas.1230273100 10.1016/j.nmd.2015.01.006 10.1007/164_2017_52 10.1002/14651858.CD005045.pub2 10.1093/brain/113.6.1873 10.1016/j.cell.2009.12.024 10.1016/S0960-8966(02)00218-3 10.1016/j.nmd.2018.03.006 10.3233/JND-150069 10.4103/ijn.ijn_143_22 10.3389/fneur.2020.00646 10.3233/JND-190383 10.1002/mgg3.142 10.1002/1097-4598(200007)23:7<1089:AID-MUS12>3.0.CO;2-Q 10.1007/s10048-021-00673-2 10.1007/s00424-010-0820-6 10.1002/mus.26074 10.1002/cphy.c140062 10.1212/WNL.0000000000004894 10.1007/978-90-481-9485-8_18 10.1212/WNL.0000000000007185 10.1136/jmedgenet-2020-106901 10.1136/practneurol-2020-002576 10.1212/WNL.0b013e31823a0cb6 10.1016/j.ncl.2014.04.011 10.3389/fneur.2020.00181 10.1016/j.nmd.2020.05.007 10.1212/01.wnl.0000223838.88872.da 10.1016/j.nmd.2009.12.005 10.1093/brain/awm248 10.1093/brain/awh639 10.1007/s00415-009-5049-y 10.1006/geno.1995.1121 10.1016/j.nmd.2013.05.001 10.1038/jhg.2013.58 10.1093/bja/72.2.210 10.1002/ana.20905 10.1085/jgp.201010510 10.1096/fj.201500079R 10.1113/jphysiol.2009.186627 10.1002/mus.23460 10.1016/j.nmd.2009.06.369 10.3389/fncel.2015.00156 10.1097/CRD.0000000000000326 10.1038/s41598-023-29759-7 10.1212/01.WNL.0000119392.29624.88 10.1111/j.1399-0004.2010.01616.x 10.1016/S0014-5793(01)02202-5 10.1002/ana.20241 10.1001/jamaneurol.2015.2338 10.1212/01.wnl.0000342387.65477.46 10.1007/s00415-012-6462-1 10.1007/s10072-005-0461-x 10.1212/WNL.0b013e318259e19c 10.1006/geno.1996.0238 10.1016/B978-0-444-64074-1.00038-0 10.1212/01.wnl.0000287069.21162.94 10.1016/j.nmd.2016.09.023 10.15252/embr.201949891 10.1212/01.wnl.0000178888.03767.74 10.1016/j.nmd.2013.03.008 10.1212/WNL.0000000000009828 10.1007/s00424-010-0814-4 10.1172/JCI66091 10.1007/s00228-012-1414-3 10.1016/B978-0-444-64142-7.00053-9 10.1172/JCI57398 10.1212/WNL.0b013e3181ed9e96 10.1007/s00415-008-0010-z 10.1007/s13311-018-00677-1 10.1007/s00415-023-11729-8 10.1186/s12883-019-1322-6 10.1016/S0140-6736(08)61555-X 10.1002/(SICI)1098-1004(200005)15:5<410:AID-HUMU2>3.0.CO;2-D 10.1007/s00415-012-6817-7 10.1016/j.neulet.2019.134579 10.1111/j.1468-1331.2012.03751.x 10.1111/ene.15526 10.1016/j.nmd.2020.12.003 10.1038/gim.2015.30 10.1016/j.nmd.2020.10.004 10.1542/peds.2015-3289 10.1136/jnnp.2008.162396 10.1111/pan.12217 10.1002/mus.26009 10.1002/mus.20295 10.1093/brain/awx192 10.1093/brain/awv352 10.1002/mus.27081 10.1002/mus.26809 10.1212/WNL.0000000000002721 10.1002/ana.410350313 10.1016/B978-0-444-64076-5.00032-6 10.1016/j.pmr.2012.08.015 10.1016/j.nmd.2014.06.435 10.3389/fneur.2019.01404 10.1002/mus.20068 10.1212/WNL.0000000000000239 10.3390/cells10061521 10.1002/mus.26887 10.3389/fneur.2020.00255 10.1016/j.nurt.2007.01.005 10.1212/WNL.0000000000000649 10.1016/j.nmd.2014.09.014 10.1016/j.mehy.2020.109683 10.1002/humu.20356 10.1212/WNL.0000000000002416 10.1016/j.neurol.2022.02.458 10.1093/brain/awt133 10.1212/WNL.37.3.488 10.1038/ncpneuro0913 10.1007/s00401-016-1656-8 10.3988/jcn.2015.11.4.331 10.1001/jama.2012.12607 10.1093/hmg/3.6.941 10.1212/WNL.0b013e31828cf8d0 10.1016/j.nmd.2021.06.010 10.1001/archneur.1994.00540230033009 |
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| References | e_1_3_5_123_1 e_1_3_5_27_1 e_1_3_5_100_1 Diaz-Manera J (e_1_3_5_8_1) 2021; 6 e_1_3_5_23_1 e_1_3_5_46_1 e_1_3_5_69_1 e_1_3_5_88_1 e_1_3_5_108_1 e_1_3_5_127_1 e_1_3_5_104_1 e_1_3_5_61_1 e_1_3_5_80_1 e_1_3_5_42_1 e_1_3_5_65_1 e_1_3_5_84_1 e_1_3_5_9_1 Heidari MM (e_1_3_5_113_1) 2015; 14 e_1_3_5_5_1 e_1_3_5_39_1 e_1_3_5_112_1 e_1_3_5_35_1 e_1_3_5_77_1 e_1_3_5_58_1 e_1_3_5_116_1 e_1_3_5_50_1 e_1_3_5_92_1 e_1_3_5_73_1 Trivedi JR (e_1_3_5_12_1) 2022; 2022 e_1_3_5_54_1 e_1_3_5_96_1 e_1_3_5_31_1 e_1_3_5_101_1 e_1_3_5_124_1 e_1_3_5_28_1 e_1_3_5_120_1 e_1_3_5_24_1 e_1_3_5_109_1 e_1_3_5_66_1 e_1_3_5_47_1 e_1_3_5_89_1 e_1_3_5_105_1 e_1_3_5_128_1 e_1_3_5_81_1 e_1_3_5_62_1 e_1_3_5_43_1 e_1_3_5_85_1 e_1_3_5_20_1 e_1_3_5_4_1 e_1_3_5_17_1 e_1_3_5_13_1 e_1_3_5_36_1 e_1_3_5_55_1 e_1_3_5_78_1 e_1_3_5_59_1 e_1_3_5_117_1 e_1_3_5_70_1 e_1_3_5_93_1 e_1_3_5_51_1 e_1_3_5_74_1 e_1_3_5_97_1 e_1_3_5_32_1 e_1_3_5_29_1 e_1_3_5_102_1 e_1_3_5_121_1 e_1_3_5_25_1 e_1_3_5_44_1 e_1_3_5_48_1 e_1_3_5_106_1 e_1_3_5_125_1 e_1_3_5_82_1 e_1_3_5_3_1 e_1_3_5_40_1 e_1_3_5_63_1 e_1_3_5_86_1 e_1_3_5_21_1 e_1_3_5_7_1 e_1_3_5_18_1 e_1_3_5_37_1 e_1_3_5_110_1 e_1_3_5_14_1 e_1_3_5_33_1 e_1_3_5_56_1 e_1_3_5_79_1 e_1_3_5_118_1 e_1_3_5_114_1 e_1_3_5_94_1 e_1_3_5_71_1 e_1_3_5_52_1 e_1_3_5_98_1 e_1_3_5_75_1 e_1_3_5_10_1 e_1_3_5_90_1 e_1_3_5_122_1 e_1_3_5_26_1 e_1_3_5_22_1 Maggi L (e_1_3_5_67_1) 2015; 34 e_1_3_5_45_1 e_1_3_5_107_1 e_1_3_5_68_1 e_1_3_5_49_1 e_1_3_5_103_1 e_1_3_5_126_1 e_1_3_5_83_1 e_1_3_5_60_1 e_1_3_5_41_1 e_1_3_5_87_1 e_1_3_5_64_1 e_1_3_5_6_1 e_1_3_5_38_1 e_1_3_5_111_1 e_1_3_5_15_1 e_1_3_5_11_1 e_1_3_5_34_1 e_1_3_5_57_1 e_1_3_5_99_1 e_1_3_5_119_1 e_1_3_5_115_1 e_1_3_5_19_1 e_1_3_5_72_1 e_1_3_5_91_1 Dunø M (e_1_3_5_16_1) 1993 e_1_3_5_53_1 e_1_3_5_76_1 e_1_3_5_95_1 e_1_3_5_30_1 |
| References_xml | – ident: e_1_3_5_11_1 doi: 10.1002/mus.23683 – ident: e_1_3_5_26_1 doi: 10.1073/pnas.1230273100 – ident: e_1_3_5_101_1 doi: 10.1016/j.nmd.2015.01.006 – ident: e_1_3_5_17_1 doi: 10.1007/164_2017_52 – ident: e_1_3_5_23_1 doi: 10.1002/14651858.CD005045.pub2 – ident: e_1_3_5_70_1 doi: 10.1093/brain/113.6.1873 – ident: e_1_3_5_42_1 doi: 10.1016/j.cell.2009.12.024 – ident: e_1_3_5_97_1 doi: 10.1016/S0960-8966(02)00218-3 – ident: e_1_3_5_4_1 doi: 10.1016/j.nmd.2018.03.006 – ident: e_1_3_5_55_1 doi: 10.3233/JND-150069 – ident: e_1_3_5_79_1 doi: 10.4103/ijn.ijn_143_22 – ident: e_1_3_5_18_1 doi: 10.3389/fneur.2020.00646 – ident: e_1_3_5_35_1 doi: 10.3233/JND-190383 – ident: e_1_3_5_33_1 doi: 10.1002/mgg3.142 – ident: e_1_3_5_61_1 doi: 10.1002/1097-4598(200007)23:7<1089:AID-MUS12>3.0.CO;2-Q – ident: e_1_3_5_104_1 doi: 10.1007/s10048-021-00673-2 – ident: e_1_3_5_38_1 doi: 10.1007/s00424-010-0820-6 – ident: e_1_3_5_63_1 doi: 10.1002/mus.26074 – ident: e_1_3_5_87_1 doi: 10.1002/cphy.c140062 – ident: e_1_3_5_47_1 doi: 10.1212/WNL.0000000000004894 – ident: e_1_3_5_50_1 doi: 10.1007/978-90-481-9485-8_18 – ident: e_1_3_5_29_1 doi: 10.1212/WNL.0000000000007185 – ident: e_1_3_5_36_1 doi: 10.1136/jmedgenet-2020-106901 – ident: e_1_3_5_6_1 doi: 10.1136/practneurol-2020-002576 – ident: e_1_3_5_90_1 doi: 10.1212/WNL.0b013e31823a0cb6 – volume: 6 start-page: 37 issue: 2 year: 2021 ident: e_1_3_5_8_1 article-title: Understanding the impact of non-dystrophic myotonia on patients and caregivers: results from a burden of disease healthcare survey publication-title: EMJ – ident: e_1_3_5_71_1 doi: 10.1016/j.ncl.2014.04.011 – ident: e_1_3_5_30_1 doi: 10.3389/fneur.2020.00181 – ident: e_1_3_5_93_1 doi: 10.1016/j.nmd.2020.05.007 – ident: e_1_3_5_21_1 doi: 10.1212/01.wnl.0000223838.88872.da – ident: e_1_3_5_46_1 doi: 10.1016/j.nmd.2009.12.005 – ident: e_1_3_5_53_1 doi: 10.1093/brain/awm248 – ident: e_1_3_5_31_1 doi: 10.1093/brain/awh639 – ident: e_1_3_5_48_1 doi: 10.1007/s00415-009-5049-y – volume: 2022 start-page: 281778 year: 2022 ident: e_1_3_5_12_1 article-title: Muscle channelopathies publication-title: Continuum (Minneap Minn) – ident: e_1_3_5_117_1 doi: 10.1006/geno.1995.1121 – ident: e_1_3_5_66_1 doi: 10.1016/j.nmd.2013.05.001 – ident: e_1_3_5_110_1 doi: 10.1038/jhg.2013.58 – ident: e_1_3_5_92_1 doi: 10.1093/bja/72.2.210 – ident: e_1_3_5_62_1 doi: 10.1002/ana.20905 – ident: e_1_3_5_3_1 doi: 10.1085/jgp.201010510 – ident: e_1_3_5_107_1 doi: 10.1096/fj.201500079R – ident: e_1_3_5_123_1 doi: 10.1113/jphysiol.2009.186627 – ident: e_1_3_5_49_1 doi: 10.1002/mus.23460 – ident: e_1_3_5_65_1 doi: 10.1016/j.nmd.2009.06.369 – ident: e_1_3_5_14_1 doi: 10.3389/fncel.2015.00156 – ident: e_1_3_5_116_1 doi: 10.1097/CRD.0000000000000326 – ident: e_1_3_5_69_1 doi: 10.1038/s41598-023-29759-7 – ident: e_1_3_5_121_1 doi: 10.1212/01.WNL.0000119392.29624.88 – ident: e_1_3_5_72_1 doi: 10.1111/j.1399-0004.2010.01616.x – ident: e_1_3_5_115_1 doi: 10.1016/S0014-5793(01)02202-5 – ident: e_1_3_5_57_1 doi: 10.1002/ana.20241 – ident: e_1_3_5_82_1 doi: 10.1001/jamaneurol.2015.2338 – ident: e_1_3_5_119_1 doi: 10.1212/01.wnl.0000342387.65477.46 – ident: e_1_3_5_100_1 doi: 10.1007/s00415-012-6462-1 – ident: e_1_3_5_109_1 doi: 10.1007/s10072-005-0461-x – ident: e_1_3_5_105_1 doi: 10.1212/WNL.0b013e318259e19c – ident: e_1_3_5_124_1 doi: 10.1006/geno.1996.0238 – ident: e_1_3_5_32_1 doi: 10.1016/B978-0-444-64074-1.00038-0 – ident: e_1_3_5_112_1 doi: 10.1212/01.wnl.0000287069.21162.94 – ident: e_1_3_5_28_1 doi: 10.1016/j.nmd.2016.09.023 – ident: e_1_3_5_125_1 doi: 10.15252/embr.201949891 – ident: e_1_3_5_118_1 doi: 10.1212/01.wnl.0000178888.03767.74 – ident: e_1_3_5_45_1 doi: 10.1016/j.nmd.2013.03.008 – volume: 14 start-page: 190 issue: 4 year: 2015 ident: e_1_3_5_113_1 article-title: Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia publication-title: Iran J Neurol – ident: e_1_3_5_56_1 doi: 10.1212/WNL.0000000000009828 – ident: e_1_3_5_102_1 doi: 10.1007/s00424-010-0814-4 – ident: e_1_3_5_126_1 doi: 10.1172/JCI66091 – ident: e_1_3_5_84_1 doi: 10.1007/s00228-012-1414-3 – ident: e_1_3_5_58_1 doi: 10.1016/B978-0-444-64142-7.00053-9 – ident: e_1_3_5_127_1 doi: 10.1172/JCI57398 – ident: e_1_3_5_25_1 doi: 10.1212/WNL.0b013e3181ed9e96 – ident: e_1_3_5_73_1 doi: 10.1007/s00415-008-0010-z – volume: 34 start-page: 109 issue: 2 year: 2015 ident: e_1_3_5_67_1 article-title: Imaging alterations in skeletal muscle channelopathies: a study in 15 patients publication-title: Acta Myologica – ident: e_1_3_5_43_1 doi: 10.1007/s13311-018-00677-1 – ident: e_1_3_5_74_1 doi: 10.1007/s00415-023-11729-8 – ident: e_1_3_5_120_1 doi: 10.1186/s12883-019-1322-6 – ident: e_1_3_5_75_1 doi: 10.1016/S0140-6736(08)61555-X – volume-title: GeneReviews® [Internet] year: 1993 ident: e_1_3_5_16_1 – ident: e_1_3_5_96_1 doi: 10.1002/(SICI)1098-1004(200005)15:5<410:AID-HUMU2>3.0.CO;2-D – ident: e_1_3_5_44_1 doi: 10.1007/s00415-012-6817-7 – ident: e_1_3_5_128_1 doi: 10.1016/j.neulet.2019.134579 – ident: e_1_3_5_13_1 doi: 10.1111/j.1468-1331.2012.03751.x – ident: e_1_3_5_95_1 doi: 10.1111/ene.15526 – ident: e_1_3_5_103_1 doi: 10.1016/j.nmd.2020.12.003 – ident: e_1_3_5_106_1 doi: 10.1038/gim.2015.30 – ident: e_1_3_5_10_1 doi: 10.1016/j.nmd.2020.10.004 – ident: e_1_3_5_86_1 doi: 10.1542/peds.2015-3289 – ident: e_1_3_5_19_1 doi: 10.1136/jnnp.2008.162396 – ident: e_1_3_5_94_1 doi: 10.1111/pan.12217 – ident: e_1_3_5_7_1 doi: 10.1002/mus.26009 – ident: e_1_3_5_15_1 doi: 10.1002/mus.20295 – ident: e_1_3_5_83_1 doi: 10.1093/brain/awx192 – ident: e_1_3_5_27_1 doi: 10.1093/brain/awv352 – ident: e_1_3_5_64_1 doi: 10.1002/mus.27081 – ident: e_1_3_5_77_1 doi: 10.1002/mus.26809 – ident: e_1_3_5_85_1 doi: 10.1212/WNL.0000000000002721 – ident: e_1_3_5_37_1 doi: 10.1002/ana.410350313 – ident: e_1_3_5_24_1 doi: 10.1093/brain/awh639 – ident: e_1_3_5_41_1 doi: 10.1016/B978-0-444-64076-5.00032-6 – ident: e_1_3_5_59_1 doi: 10.1016/j.pmr.2012.08.015 – ident: e_1_3_5_99_1 doi: 10.1016/j.nmd.2014.06.435 – ident: e_1_3_5_111_1 doi: 10.3389/fneur.2019.01404 – ident: e_1_3_5_122_1 doi: 10.1002/mus.20068 – ident: e_1_3_5_40_1 doi: 10.1097/CRD.0000000000000326 – ident: e_1_3_5_114_1 doi: 10.1212/WNL.0000000000000239 – ident: e_1_3_5_89_1 doi: 10.3390/cells10061521 – ident: e_1_3_5_9_1 doi: 10.1002/mus.26887 – ident: e_1_3_5_54_1 doi: 10.3389/fneur.2020.00255 – ident: e_1_3_5_39_1 doi: 10.1016/j.nurt.2007.01.005 – ident: e_1_3_5_51_1 doi: 10.1212/WNL.0000000000000649 – ident: e_1_3_5_60_1 doi: 10.1016/j.nmd.2014.09.014 – ident: e_1_3_5_88_1 doi: 10.1016/j.mehy.2020.109683 – ident: e_1_3_5_98_1 doi: 10.1002/humu.20356 – ident: e_1_3_5_91_1 doi: 10.1212/WNL.0000000000002416 – ident: e_1_3_5_78_1 doi: 10.1016/j.neurol.2022.02.458 – ident: e_1_3_5_52_1 doi: 10.1093/brain/awt133 – ident: e_1_3_5_22_1 doi: 10.1212/WNL.37.3.488 – ident: e_1_3_5_76_1 doi: 10.1038/ncpneuro0913 – ident: e_1_3_5_34_1 doi: 10.1007/s00401-016-1656-8 – ident: e_1_3_5_68_1 doi: 10.3988/jcn.2015.11.4.331 – ident: e_1_3_5_81_1 doi: 10.1001/jama.2012.12607 – ident: e_1_3_5_108_1 doi: 10.1093/hmg/3.6.941 – ident: e_1_3_5_5_1 doi: 10.1212/WNL.0b013e31828cf8d0 – ident: e_1_3_5_80_1 doi: 10.1016/j.nmd.2021.06.010 – ident: e_1_3_5_20_1 doi: 10.1001/archneur.1994.00540230033009 |
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