ArticleNeurology2018
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.
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Article in Neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5citing papers in PubMed
0.2field-weighted citation impact, top 54% of its field
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Who cites it
5 citing papers in PubMed, 4 citations in OpenAlex.
- The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression.Human mutation · 2026Article
- Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3.Molecular genetics & genomic medicine · 2024Article
- Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease.Neurology. Genetics · 2023Article
- Recent Advances inInternational journal of molecular sciences · 2020Review
- Validation of the Italian version of the Charcot-Marie-Tooth disease Pediatric Scale.Journal of the peripheral nervous system : JPNS · 2020Article
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Authors and funding
12 authors at 1 institution in 1 country.
Manoj KanhangadFrom the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.
Kayla CornettFrom the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.
Megan H BrewerFrom the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.
Garth A NicholsonFrom the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.
Monique M RyanFrom the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.
Robert L SmithFrom the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.
Gopinath M SubramanianFrom the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.
Helen K YoungFrom the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.
Stephan ZüchnerFrom the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.
Marina L KennersonFrom the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.
Joshua BurnsFrom the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.
Manoj P MenezesFrom the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia. manoj.menezes@health.nsw.gov.au.
Mahindra and Mahindra Limited (India) · IN
Funding
trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6MNINDS NIH HHS U54 NS065712
Abstract
objectiveTo describe in detail the clinical profile of Charcot-Marie-Tooth disease subtype 3 (CMTX3) to aid appropriate genetic testing and rehabilitative therapy.
methodsWe reviewed the clinical and neurophysiologic profile and CMT Pediatric Scale (CMTPedS) assessments of 11 children with CMTX3.
resultsCompared with the more common forms of CMT, CMT1A and CMTX, CMTX3 was characterized by early onset with early and progressive hand weakness. Most affected children were symptomatic within the first 2 years of life. The most common presentation was foot deformity in the first year of life. CMTPedS analysis in these children revealed that CMTX3 progressed more rapidly (4.3 ± 4.1 points over 2 years, n = 7) than CMT1A and CMTX1. Grip strength in affected boys was 2 SDs below age- and sex-matched normative reference values (
conclusionsCMTX3 had an earlier onset, severe hand weakness, and more rapidly progressive disability compared to the more common forms of CMT. Understanding the unique phenotype of CMTX3 is essential for directing genetic testing because the CMTX3 insertion will not be seen on a routine microarray or neuromuscular gene panel. Early diagnosis will enable rehabilitation to be started early in this rapidly progressive neuropathy.
Indexed as
Charcot-Marie-Tooth DiseaseAdolescentAustraliaCase-Control StudiesChildChild, PreschoolCohort StudiesConnexinsFamily HealthFemaleGenetic TestingHand StrengthHumansInfantMaleMutationConnexins
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