| H00264 | |
| H number | H00264 |
| Name | Charcot-Marie-Tooth disease; Hereditary motor and sensory neuropathy |
| Description | Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction velocities, the disease can be divided into demyelinating CMT (CMT1), axonal CMT (CMT2) and intermediate CMT (CMTDI/CMTRI). Although more than 70 disease genes for CMT are known, a large number of affected individuals remain without a genetic diagnosis. |
| Category | Neurodegenerative disease |
| Network | nt06515(H00264) Regulation of kinetochore-microtubule interactions |
| Gene | (CMT1A/1E) PMP22 [HSA:5376] [KO:K19289] (CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770] (CMT1C) LITAF [HSA:9516] [KO:K19363] (CMT1D/4E) EGR2 [HSA:1959] [KO:K12496] (CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572] (CMT1G) PMP2 [HSA:5375] [KO:K24977] (CMT1H) FBLN5 [HSA:10516] [KO:K17340] (CMT1I) POLR3B [HSA:55703] [KO:K03021] (CMT1J) ITPR3 [HSA:3710] [KO:K04960] (CMT2A1) KIF1B [HSA:23095] [KO:K10392] (CMT2A2/6) MFN2 [HSA:9927] [KO:K06030] (CMT2B) RAB7A [HSA:7879] [KO:K07897] (CMT2B1) LMNA [HSA:4000] [KO:K12641] (CMT2B2) PNKP [HSA:11284] [KO:K08073] (CMT2C) TRPV4 [HSA:59341] [KO:K04973] (CMT2CC) NEFH [HSA:4744] [KO:K04574] (CMT2D) GARS1 [HSA:2617] [KO:K01880] (CMT2DD) ATP1A1 [HSA:476] [KO:K01539] (CMT2EE) MPV17 [HSA:4358] [KO:K13348] (CMT2F) HSPB1 [HSA:3315] [KO:K04455] (CMT2FF) CADM3 [HSA:57863] [KO:K06780] (CMT2GG) GBF1 [HSA:8729] [KO:K18443] (CMT2HH) JAG1 [HSA:182] [KO:K06052] (CMT2II) SLC12A6 [HSA:9990] [KO:K14427] (CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077] (CMT2K) JPH1 [HSA:56704] [KO:K19530] (CMT2L) HSPB8 [HSA:26353] [KO:K08879] (CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484] (CMT2N) AARS1 [HSA:16] [KO:K01872] (CMT2O) DYNC1H1 [HSA:1778] [KO:K10413] (CMT2P) LRSAM1 [HSA:90678] [KO:K10641] (CMT2Q) DHTKD1 [HSA:55526] [KO:K15791] (CMT2R) TRIM2 [HSA:23321] [KO:K11997] (CMT2S) IGHMBP2 [HSA:3508] [KO:K19036] (CMT2T) MME [HSA:4311] [KO:K01389] (CMT2U) MARS1 [HSA:4141] [KO:K01874] (CMT2V) NAGLU [HSA:4669] [KO:K01205] (CMT2W) HARS1 [HSA:3035] [KO:K01892] (CMT2X) SPG11 [HSA:80208] [KO:K19026] (CMT2Y) VCP [HSA:7415] [KO:K13525] (CMT2Z) MORC2 [HSA:22880] [KO:K24135] (CMT4B1) MTMR2 [HSA:8898] [KO:K18081] (CMT4B2) SBF2 [HSA:81846] [KO:K18061] (CMT4B3) SBF1 [HSA:6305] [KO:K18061] (CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313] (CMT4D) NDRG1 [HSA:10397] [KO:K18266] (CMT4F) PRX [HSA:57716] (CMT4H) FGD4 [HSA:121512] [KO:K05723] (CMT4J) FIG4 [HSA:9896] [KO:K22913] (CMT4K) SURF1 [HSA:6834] [KO:K14998] (CMT6B) SLC25A46 [HSA:91137] [KO:K03454] (CMT6C) PDXK [HSA:8566] [KO:K00868] (CMTX1) GJB1 [HSA:2705] [KO:K07620] (CMTX5) PRPS1 [HSA:5631] [KO:K00948] (CMTX6) PDK3 [HSA:5165] [KO:K00898] (CMTDIC) YARS1 [HSA:8565] [KO:K01866] (CMTDIE) INF2 [HSA:64423] [KO:K23958] (CMTDIF) GNB4 [HSA:59345] [KO:K04538] (CMTRIB) KARS1 [HSA:3735] [KO:K04567] (CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464] (CMTRID) COX6A1 [HSA:1337] [KO:K02266] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | CMT1: Abnormal myelin, autosomal dominant CMT2: Axonopathy, autosomal dominant Intermediate form: Combination of myelinopathy and axonopathy in individual, autosomal dominant CMT4: Either myelinopathy or axonopathy, autosomal recessive CMTX: Axonopathy with secondary myelin changes, X-linked dominant MNMN: Mononeuropathy of the median nerve mild |
| Other DBs | ICD-11: 8C20.0 8C20.1 8C20.2 ICD-10: G60.0 MeSH: D002607 OMIM: 118220 118200 601098 607678 118300 607734 618279 619764 619742 620111 118210 609260 617087 600882 605588 605589 606071 601472 607684 606595 607677 607736 607831 608673 606482 613287 614228 614436 615025 615490 616155 617017 616280 616491 616625 616668 616687 616688 616924 618036 618400 619519 606483 619574 620068 607706 214400 601382 604563 615284 601596 613353 601455 605253 614895 609311 611228 616684 601152 616505 618511 302800 311070 300905 608323 607791 614455 615185 617882 608340 613641 615376 616039 |
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JOURNAL Brain 144:1197-1213 (2021) DOI:10.1093/brain/awab019 PMID:32937143 (GBF1) AUTHORS Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Holker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B TITLE De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. JOURNAL Am J Hum Genet 107:763-777 (2020) DOI:10.1016/j.ajhg.2020.08.018 PMID:32065591 (JAG1) AUTHORS Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, Marion MH, Hicklin LA, Modarres H, Baple EL, Farah MH, Zuberi AR, Lutz CM, Gaudet R, Traynor BJ, Crosby AH, Sumner CJ TITLE Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. JOURNAL J Clin Invest 130:1506-1512 (2020) DOI:10.1172/JCI128152 PMID:20220177 (SH3TC2) AUTHORS Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA TITLE Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. JOURNAL N Engl J Med 362:1181-91 (2010) DOI:10.1056/NEJMoa0908094 PMID:21820100 (DYNC1H1) AUTHORS Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S TITLE Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. JOURNAL Am J Hum Genet 89:308-12 (2011) DOI:10.1016/j.ajhg.2011.07.002 PMID:20865121 (LRSAM1) AUTHORS Guernsey DL, Jiang H, Bedard K, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Perry S, Rideout AL, Orr A, Ludman M, Skidmore DL, Benstead T, Samuels ME TITLE Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. JOURNAL PLoS Genet 6:e1001081 (2010) DOI:10.1371/journal.pgen.1001081 PMID:23141294 (DHTKD1) AUTHORS Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG TITLE A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. JOURNAL Am J Hum Genet 91:1088-94 (2012) DOI:10.1016/j.ajhg.2012.09.018 PMID:23562820 (TRIM2) AUTHORS Ylikallio E, Poyhonen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lonnqvist T, Tyynismaa H TITLE Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. JOURNAL Hum Mol Genet 22:2975-83 (2013) DOI:10.1093/hmg/ddt149 PMID:25439726 (IGHMBP2) AUTHORS Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzinska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H TITLE Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. JOURNAL Am J Hum Genet 95:590-601 (2014) DOI:10.1016/j.ajhg.2014.10.002 PMID:26991897 (MME) AUTHORS Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H TITLE Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. JOURNAL Ann Neurol 79:659-72 (2016) DOI:10.1002/ana.24612 PMID:23729695 (MARS1) AUTHORS Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Zuchner S TITLE Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. JOURNAL J Neurol Neurosurg Psychiatry 84:1247-9 (2013) DOI:10.1136/jnnp-2013-305049 PMID:25125609 (VCP) AUTHORS Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME TITLE A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. JOURNAL Brain 137:2897-902 (2014) DOI:10.1093/brain/awu224 PMID:26659848 (MORC2) AUTHORS Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA TITLE MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. JOURNAL Ann Neurol 79:419-27 (2016) DOI:10.1002/ana.24575 PMID:24799518 (SBF1) AUTHORS Alazami AM, Alzahrani F, Bohlega S, Alkuraya FS TITLE SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3. JOURNAL Neurology 82:1665-6 (2014) DOI:10.1212/WNL.0000000000000331 PMID:21655088 (FIG4) AUTHORS Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH TITLE Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. JOURNAL PLoS Genet 7:e1002104 (2011) DOI:10.1371/journal.pgen.1002104 PMID:24027061 (SURF1) AUTHORS Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayencon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B TITLE SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. 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JOURNAL Ann Neurol 86:225-240 (2019) DOI:10.1002/ana.25524 PMID:23297365 (PDK3) AUTHORS Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Zuchner S, Ryan MM, Nicholson GA TITLE A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. JOURNAL Hum Mol Genet 22:1404-16 (2013) DOI:10.1093/hmg/dds557 PMID:22187985 (INF2) AUTHORS Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tete MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G TITLE INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. JOURNAL N Engl J Med 365:2377-88 (2011) DOI:10.1056/NEJMoa1109122 PMID:23434117 (GNB4) AUTHORS Soong BW, Huang YH, Tsai PC, Huang CC, Pan HC, Lu YC, Chien HJ, Liu TT, Chang MH, Lin KP, Tu PH, Kao LS, Lee YC TITLE Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. JOURNAL Am J Hum Genet 92:422-30 (2013) DOI:10.1016/j.ajhg.2013.01.014 PMID:23777631 (PLEKHG5) AUTHORS Azzedine H, Zavadakova P, Plante-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Medard JJ, Makowski E, Schols L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R TITLE PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. JOURNAL Hum Mol Genet 22:4224-32 (2013) DOI:10.1093/hmg/ddt274 PMID:25152455 (COX6A1) AUTHORS Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K TITLE A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. JOURNAL Am J Hum Genet 95:294-300 (2014) DOI:10.1016/j.ajhg.2014.07.013 PMID:21576112 (FBLN5) AUTHORS Auer-Grumbach M, Weger M, Fink-Puches R, Papic L, Frohlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhuttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C TITLE Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. JOURNAL Brain 134:1839-52 (2011) DOI:10.1093/brain/awr076 PMID:33417887 (POLR3B) AUTHORS Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G TITLE De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. JOURNAL Am J Hum Genet 108:186-193 (2021) DOI:10.1016/j.ajhg.2020.12.002 PMID:24627108 (ITPR3) AUTHORS Schabhuttl M, Wieland T, Senderek J, Baets J, Timmerman V, De Jonghe P, Reilly MM, Stieglbauer K, Laich E, Windhager R, Erwa W, Trajanoski S, Strom TM, Auer-Grumbach M TITLE Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. JOURNAL J Neurol 261:970-82 (2014) DOI:10.1007/s00415-014-7289-8 PMID:25818867 (NAGLU) AUTHORS Tetreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B TITLE Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. JOURNAL Brain 138:1477-83 (2015) DOI:10.1093/brain/awv074 PMID:26556829 (SPG11) AUTHORS Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A TITLE ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. JOURNAL Brain 139:73-85 (2016) DOI:10.1093/brain/awv320 PMID:27485015 (SLC12A6) AUTHORS Kahle KT, Flores B, Bharucha-Goebel D, Zhang J, Donkervoort S, Hegde M, Hussain G, Duran D, Liang B, Sun D, Bonnemann CG, Delpire E TITLE Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter. JOURNAL Sci Signal 9:ra77 (2016) DOI:10.1126/scisignal.aae0546 |