エントリ 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
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ]jp08407.html ] BRITE hierarchy パスウェイ hsa04080 Neuroactive ligand-receptor interaction
hsa00513 Various types of N-glycan biosynthesis
ネットワーク nt06539 Cytoskeleton in muscle cells
病因遺伝子 リンク 文献 著者 Argov Z
タイトル Management of myasthenic conditions: nonimmune issues.
雑誌 文献 著者 Spillane J, Beeson DJ, Kullmann DM
タイトル Myasthenia and related disorders of the neuromuscular junction.
雑誌 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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.
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