| H00770 | |
| H番号 | H00770 |
| 名称 | 先天性筋無力症候群 |
| 概要 | Congenital myasthenic syndromes (CMS) are a heterogenous group of genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation and function depend. The majority are recessively inherited. The disorders of the NMJ cause weakness and fatigue. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (CMS1A/1B) CHRNA1 [HSA:1134] [KO:K04803] (CMS2A/2C) CHRNB1 [HSA:1140] [KO:K04812] (CMS3A/3B/3C) CHRND [HSA:1144] [KO:K04816] (CMS4A/4B/4C) CHRNE [HSA:1145] [KO:K04817] (CMS5) COLQ [HSA:8292] [KO:K26586] (CMS6) CHAT [HSA:1103] [KO:K00623] (CMS7A/7B) SYT2 [HSA:127833] [KO:K19902] (CMS8) AGRN [HSA:375790] [KO:K06254] (CMS9) MUSK [HSA:4593] [KO:K05129] (CMS10) DOK7 [HSA:285489] [KO:K24038] (CMS11) RAPSN [HSA:5913] [KO:K24924] (CMS12) GFPT1 [HSA:2673] [KO:K00820] (CMS13) DPAGT1 [HSA:1798] [KO:K01001] (CMS14) ALG2 [HSA:85365] [KO:K03843] (CMS15) ALG14 [HSA:199857] [KO:K07441] (CMS16) SCN4A [HSA:6329] [KO:K04837] (CMS17) LRP4 [HSA:4038] [KO:K20051] (CMS18) SNAP25 [HSA:6616] [KO:K18211] (CMS19) COL13A1 [HSA:1305] [KO:K16617] (CMS20) SLC5A7 [HSA:60482] [KO:K14387] (CMS21) SLC18A3 [HSA:6572] [KO:K14636] (CMS22) PREPL [HSA:9581] [KO:K22582] (CMS23) SLC25A1 [HSA:6576] [KO:K15100] (CMS24) MYO9A [HSA:4649] [KO:K10360] (CMS25) VAMP1 [HSA:6843] [KO:K08510] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C61 ICD-10: G70.2 MeSH: D020294 OMIM: 601462 608930 616313 616314 616321 616322 616323 605809 616324 608931 603034 254210 616040 619461 615120 616325 254300 616326 610542 614750 616228 616227 614198 616304 616330 616720 617143 617239 616224 618197 618198 618323 |
| 文献 | PMID:19593127 著者 Argov Z タイトル Management of myasthenic conditions: nonimmune issues. 雑誌 Curr Opin Neurol 22:493-7 (2009) DOI:10.1097/WCO.0b013e32832f15fa PMID:20547629 著者 Spillane J, Beeson DJ, Kullmann DM タイトル Myasthenia and related disorders of the neuromuscular junction. 雑誌 J Neurol Neurosurg Psychiatry 81:850-7 (2010) DOI:10.1136/jnnp.2008.169367 PMID:8872460 (CMS1A CMS2A CMS4A) 著者 Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM タイトル New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. 雑誌 Hum Mol Genet 5:1217-27 (1996) DOI:10.1093/hmg/5.9.1217 PMID:10195214 (CMS1B) 著者 Wang HL, Milone M, Ohno K, Shen XM, Tsujino A, Batocchi AP, Tonali P, Brengman J, Engel AG, Sine SM タイトル Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. 雑誌 Nat Neurosci 2:226-33 (1999) DOI:10.1038/6326 PMID:10562302 (CMS2C) 著者 Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG タイトル Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. 雑誌 J Clin Invest 104:1403-10 (1999) DOI:10.1172/JCI8179 PMID:11782989 (CMS3A) 著者 Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J タイトル Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. 雑誌 Ann Neurol 51:102-12 (2002) DOI:10.1002/ana.10077 PMID:11435464 (CMS3B) 著者 Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D タイトル Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. 雑誌 J Clin Invest 108:125-30 (2001) DOI:10.1172/JCI12935 PMID:16916845 (CMS3C) 著者 Muller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmuller H, Abicht A タイトル CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. 雑誌 Brain 129:2784-93 (2006) DOI:10.1093/brain/awl188 PMID:8755487 (CMS4B) 著者 Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG タイトル Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. 雑誌 Neuron 17:157-70 (1996) DOI:10.1016/s0896-6273(00)80289-5 PMID:8957026 (CMS4C) 著者 Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC タイトル End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. 雑誌 Ann Neurol 40:810-7 (1996) DOI:10.1002/ana.410400521 PMID:9689136 (CMS5) 著者 Ohno K, Brengman J, Tsujino A, Engel AG タイトル Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. 雑誌 Proc Natl Acad Sci U S A 95:9654-9 (1998) DOI:10.1073/pnas.95.16.9654 PMID:11172068 (CMS6) 著者 Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, Udd B, Beyring R, Robb S, Kirkham FJ, Engel AG タイトル Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 雑誌 Proc Natl Acad Sci U S A 98:2017-22 (2001) DOI:10.1073/pnas.98.4.2017 PMID:25192047 (CMS7A) 著者 Herrmann DN, Horvath R, Sowden JE, Gonzalez M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmuller H, Griffin H, Chinnery PF, Lloyd TE, Littleton JT, Zuchner S タイトル Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. 雑誌 Am J Hum Genet 95:332-9 (2014) DOI:10.1016/j.ajhg.2014.08.007 PMID:32250532 (CMS7B) 著者 Maselli RA, van der Linden H Jr, Ferns M タイトル Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence. 雑誌 Am J Med Genet A 182:1744-1749 (2020) DOI:10.1002/ajmg.a.61579 PMID:19631309 (CMS8) 著者 Huze C, Bauche S, Richard P, Chevessier F, Goillot E, Gaudon K, Ben Ammar A, Chaboud A, Grosjean I, Lecuyer HA, Bernard V, Rouche A, Alexandri N, Kuntzer T, Fardeau M, Fournier E, Brancaccio A, Ruegg MA, Koenig J, Eymard B, Schaeffer L, Hantai D タイトル Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. 雑誌 Am J Hum Genet 85:155-67 (2009) DOI:10.1016/j.ajhg.2009.06.015 PMID:15496425 (CMS9) 著者 Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauche S, Prioleau C, Herbst R, Goillot E, Ioos C, Azulay JP, Attarian S, Leroy JP, Fournier E, Legay C, Schaeffer L, Koenig J, Fardeau M, Eymard B, Pouget J, Hantai D タイトル MUSK, a new target for mutations causing congenital myasthenic syndrome. 雑誌 Hum Mol Genet 13:3229-40 (2004) DOI:10.1093/hmg/ddh333 PMID:16917026 (CMS10) 著者 Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Muller JS, Lochmuller H, Slater C, Vincent A, Yamanashi Y タイトル Dok-7 mutations underlie a neuromuscular junction synaptopathy. 雑誌 Science 313:1975-8 (2006) DOI:10.1126/science.1130837 PMID:11791205 (CMS11) 著者 Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M タイトル Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. 雑誌 Am J Hum Genet 70:875-85 (2002) DOI:10.1086/339465 PMID:21310273 (CMS12) 著者 Senderek J, Muller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hubner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmuller H タイトル Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. 雑誌 Am J Hum Genet 88:162-72 (2011) DOI:10.1016/j.ajhg.2011.01.008 PMID:22742743 (CMS13) 著者 Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D タイトル Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. 雑誌 Am J Hum Genet 91:193-201 (2012) DOI:10.1016/j.ajhg.2012.05.022 PMID:23404334 (CMS14 CMS15) 著者 Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ, Donnelly P, Bentley D, McGowan SJ, Muller J, Palace J, Lochmuller H, Beeson D タイトル Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. 雑誌 Brain 136:944-56 (2013) DOI:10.1093/brain/awt010 PMID:12766226 (CMS16) 著者 Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG タイトル Myasthenic syndrome caused by mutation of the SCN4A sodium channel. 雑誌 Proc Natl Acad Sci U S A 100:7377-82 (2003) DOI:10.1073/pnas.1230273100 PMID:24234652 (CMS17) 著者 Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, Ito M, Masuda A, Ito Y, Engel AG, Ohno K タイトル LRP4 third beta-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. 雑誌 Hum Mol Genet 23:1856-68 (2014) DOI:10.1093/hmg/ddt578 PMID:25381298 (CMS18) 著者 Shen XM, Selcen D, Brengman J, Engel AG タイトル Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. 雑誌 Neurology 83:2247-55 (2014) DOI:10.1212/WNL.0000000000001079 PMID:26626625 (CMS19) 著者 Logan CV, Cossins J, Rodriguez Cruz PM, Parry DA, Maxwell S, Martinez-Martinez P, Riepsaame J, Abdelhamed ZA, Lake AV, Moran M, Robb S, Chow G, Sewry C, Hopkins PM, Sheridan E, Jayawant S, Palace J, Johnson CA, Beeson D タイトル Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII alpha1 Chain. 雑誌 Am J Hum Genet 97:878-85 (2015) DOI:10.1016/j.ajhg.2015.10.017 PMID:27569547 (CMS20) 著者 Bauche S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacene E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Boeuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S タイトル Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 雑誌 Am J Hum Genet 99:753-761 (2016) DOI:10.1016/j.ajhg.2016.06.033 PMID:27590285 (CMS21) 著者 O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST タイトル Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. 雑誌 Neurology 87:1442-1448 (2016) DOI:10.1212/WNL.0000000000003179 PMID:24610330 (CMS22) 著者 Regal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG タイトル PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. 雑誌 Neurology 82:1254-60 (2014) DOI:10.1212/WNL.0000000000000295 PMID:26870663 (CMS23) 著者 Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Muller JS, Evangelista T, Topf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmuller H タイトル Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. 雑誌 J Neuromuscul Dis 1:75-90 (2014) DOI:10.3233/JND-140021 PMID:27259756 (CMS24) 著者 O'Connor E, Topf A, Muller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmuller H タイトル Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. 雑誌 Brain 139:2143-53 (2016) DOI:10.1093/brain/aww130 PMID:28253535 (CMS25) 著者 Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar SS, Pitt M, Bello OD, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H タイトル Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. 雑誌 Ann Neurol 81:597-603 (2017) DOI:10.1002/ana.24905 |