Entry
Name
Congenital myasthenic syndrome
Description
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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403 ]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Myasthenia gravis or certain specified neuromuscular junction disorders
8C61 Congenital myasthenic syndromes
H00770 Congenital myasthenic syndrome
Pathway-based classification of diseases [BR:br08402 ]
Cellular process
nt06539 Cytoskeleton in muscle cells
H00770 Congenital myasthenic syndrome
BRITE hierarchy
Pathway
hsa04080 Neuroactive ligand-receptor interaction
hsa00513 Various types of N-glycan biosynthesis
Network
nt06539 Cytoskeleton in muscle cells
Gene
Other DBs
Reference
Authors
Argov Z
Title
Management of myasthenic conditions: nonimmune issues.
Journal
Reference
Authors
Spillane J, Beeson DJ, Kullmann DM
Title
Myasthenia and related disorders of the neuromuscular junction.
Journal
Reference
Authors
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
Title
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
Journal
Reference
Authors
Wang HL, Milone M, Ohno K, Shen XM, Tsujino A, Batocchi AP, Tonali P, Brengman J, Engel AG, Sine SM
Title
Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.
Journal
Reference
Authors
Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG
Title
Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.
Journal
Reference
Authors
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
Title
Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.
Journal
Reference
Authors
Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D
Title
Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
Journal
Reference
Authors
Muller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmuller H, Abicht A
Title
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
Journal
Reference
Authors
Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG
Title
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.
Journal
Reference
Authors
Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC
Title
End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.
Journal
Reference
Authors
Ohno K, Brengman J, Tsujino A, Engel AG
Title
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.
Journal
Reference
Authors
Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, Udd B, Beyring R, Robb S, Kirkham FJ, Engel AG
Title
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
Journal
Reference
Authors
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
Title
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.
Journal
Reference
Authors
Maselli RA, van der Linden H Jr, Ferns M
Title
Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence.
Journal
Reference
Authors
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
Title
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
Journal
Reference
Authors
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
Title
MUSK, a new target for mutations causing congenital myasthenic syndrome.
Journal
Reference
Authors
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
Title
Dok-7 mutations underlie a neuromuscular junction synaptopathy.
Journal
Reference
Authors
Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M
Title
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
Journal
Reference
Authors
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
Title
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Journal
Reference
Authors
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
Title
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Journal
Reference
Authors
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
Title
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Journal
Reference
Authors
Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG
Title
Myasthenic syndrome caused by mutation of the SCN4A sodium channel.
Journal
Reference
Authors
Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, Ito M, Masuda A, Ito Y, Engel AG, Ohno K
Title
LRP4 third beta-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
Journal
Reference
Authors
Shen XM, Selcen D, Brengman J, Engel AG
Title
Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability.
Journal
Reference
Authors
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
Title
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII alpha1 Chain.
Journal
Reference
Authors
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
Title
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Journal
Reference
Authors
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
Title
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
Journal
Reference
Authors
Regal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG
Title
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.
Journal
Reference
Authors
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
Title
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
Journal
Reference
Authors
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
Title
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
Journal
Reference
Authors
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
Title
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Journal
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