Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings: EDx in Women with CMT1X
Open accessAbstract
INTRODUCTION: Symptoms and signs in women with Charcot-Marie-Tooth disease type 1X (CMT1X) are often milder from those in men, but the available electrophysiologic evidence regarding CMT1X in women has been characterized in some patients as non-uniform or asymmetric. METHODS: We retrospectively reviewed electrodiagnostic findings from 45 women and 31 men with CMT1X. RESULTS: Motor nerve conduction parameters in CMT1X women were less abnormal (P < 0.05), and a wider range of motor conduction velocities (CVs) were seen in women (P < 0.001) compared with men. In women, nerve conduction studies showed lack of conduction block without temporal dispersion. Motor CVs were more frequently in the normal range in women compared with men. There was no significant relationship to age of presentation and motor CV or compound muscle action potential in women. CONCLUSION: NCS parameters in CMT1X women did not demonstrate features suggestive of an acquired demyelinating neuropathy. Muscle Nerve, 2016 Muscle Nerve 54: -, 2016 Muscle Nerve 54: 728-732, 2016.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The onset of MG occurs at any age, but significantly earlier in women than men.
“The onset of MG occurs at any age, but significantly earlier in women than men.”
From Effect of Caffeine Consumption on the Risk for Neurological and Psychiatric Disorders: Sex Differences in Human (2020) · cites this paper as [52]
The incidence of MG is significantly higher in women under age 40, but higher in men over age 50.
“The incidence of MG has been reported to be significantly higher in women under age 40, but higher in men over age 50 [52].”
From Effect of Caffeine Consumption on the Risk for Neurological and Psychiatric Disorders: Sex Differences in Human (2020) · cites this paper as [52]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Joint Task Force of the EFNS and the PNS (2010) · Journal of the Peripheral Nervous System · doi:10.1111/j.1529-8027.2010.00245.x · Cited by 541 · see citing works
Molecular basis of muscular dystrophies
Cohn, R. D., & Campbell, K. P. (2000) · Muscle & Nerve · doi:10.1002/1097-4598(200010)23:10 · Cited by 531 · see citing works
Self-citationReliability and validity of the CMT neuropathy score as a measure of disability
Shy, M. E., Blake, J. C., Krajewski, K., Fuerst, D. R., Laurá, M., Hahn, A. F., Li, J., Lewis, R. A., & Reilly, M. M. (2005) · Neurology · doi:10.1212/01.wnl.0000156517.00615.a3 · Cited by 358 · see citing works
Self-citationReliability and validity of the CMT neuropathy score as a measure of disability
Padua, L., Aprile, I. G., Caliandro, P., Pazzaglia, C., Commodari, I., & Tonali, P. (2006) · Neurology · doi:10.1212/01.wnl.0000216104.34658.82 · Cited by 324 · see citing works
Clinical and Electrophysiological Aspects of Charcot-Marie-Tooth Disease
Pareyson, D., Scaioli, V., & Laurá, M. (2006) · NeuroMolecular Medicine · doi:10.1385/nmm:8:1-2:3 · Cited by 207 · see citing works
Intermediate nerve conduction velocities define X‐linked Charcot‐Marie‐Tooth neuropathy families
Nicholson, G. A., & Nash, J. K. (1993) · Neurology · doi:10.1212/wnl.43.12.2558 · Cited by 175 · see citing works
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations
Birouk, N., Leguern, É., Maisonobe, T., Rouger, H., Gouider, R., Tardieu, S., Gugenheim, M., Routon, M. C., Léger, J., Agid, Y., et al. (1998) · Neurology · doi:10.1212/wnl.50.4.1074 · Cited by 171 · see citing works
CMT1X phenotypes represent loss of GJB1 gene function
Shy, M. E., Siskind, C. E., Swan, E. R., Krajewski, K. M., Doherty, T. J., Fuerst, D. R., Ainsworth, P., Lewis, R. A., Scherer, S. S., & Hahn, A. F. (2007) · Neurology · doi:10.1212/01.wnl.0000256709.08271.4d · Cited by 156 · see citing works
Self-citationX-LINKED DOMINANT HEREDITARY MOTOR AND SENSORY NEUROPATHY
Hahn, A. F., Brown, W. F., Koopman, W. J., & Feasby, T. E. (1990) · Brain · doi:10.1093/brain/113.5.1511 · Cited by 155 · see citing works
Dubourg, O. (2001) · Brain · doi:10.1093/brain/124.10.1958 · Cited by 151 · see citing works
Latov, N. (2002) · Neurology · doi:10.1212/wnl.59.12_suppl_6.s2 · Cited by 96 · see citing works
Severe neuropathy with leaky connexin32 hemichannels
Liang, G. S. L., de Miguel, M., Gómez‐Hernández, J. M., Glass, J. D., Scherer, S. S., Mintz, M., Barrio, L. C., & Fischbeck, K. H. (2005) · Annals of Neurology · doi:10.1002/ana.20459 · Cited by 94 · see citing works
Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families
Nicholson, G. A., Yeung, L., & Corbett, A. (1998) · Neurology · doi:10.1212/wnl.51.5.1412 · Cited by 84 · see citing works
Phenotype expression in women with CMT1X
Siskind, C. E., Murphy, S. M., Ovens, R., Polke, J. M., Reilly, M. M., & Shy, M. E. (2011) · Journal of the Peripheral Nervous System · doi:10.1111/j.1529-8027.2011.00332.x · Cited by 55 · see citing works
Self-citationElectrodiagnostic Findings in CMTX: A Disorder of the Schwann Cell and Peripheral Nerve Myelin
Lewis, R. A., & Shy, M. E. (1999) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1999.tb08622.x · Cited by 27 · see citing works
Self-citationMuscle phosphorus magnetic resonance spectroscopy oxidative indices correlate with physical activity
Tartaglia, M. C., Chen, J. T., Caramanos, Z., Taivassalo, T., Arnold, D. L., & Argov, Z. (2000) · Muscle & Nerve · doi:10.1002/(sici)1097-4598(200002)23:2 · Cited by 22 · see citing works
Flagged first, then by citations
1 of the 17 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Jee, H. J., Lee, S. G., Bormate, K. J., & Jung, Y.-S. (2020) · Nutrients · doi:10.3390/nu12103080 · Cited by 111 · see citing works
Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review
Berciano, J., Garcı́a, A., Gallardo, E. C., Peeters, K., Pelayo‐Negro, A. L., Álvarez‐Paradelo, S., Gazulla, J., Martínez-Tames, M., Infante, J., & Jordanova, A. (2017) · Journal of Neurology · doi:10.1007/s00415-017-8474-3 · Cited by 96 · see citing works
AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy
Kagiava, A., Karaiskos, C., Richter, J., Tryfonos, C., Jennings, M. J., Heslegrave, A., Sargiannidou, I., Stavrou, M., Zetterberg, H., Reilly, M. M., et al. (2021) · Gene Therapy · doi:10.1038/s41434-021-00250-0 · Cited by 65 · see citing works
Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X
Kagiava, A., Richter, J., Tryfonos, C., Karaiskos, C., Heslegrave, A., Sargiannidou, I., Rossor, A. M., Zetterberg, H., Reilly, M. M., Christodoulou, C., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz199 · Cited by 42 · see citing works
Gene therapy approaches targeting Schwann cells for demyelinating neuropathies
Sargiannidou, I., Kagiava, A., & Kleopa, K. A. (2019) · Brain Research · doi:10.1016/j.brainres.2019.146572 · Cited by 38 · see citing works
Kagiava, A., Karaiskos, C., Lapathitis, G., Heslegrave, A., Sargiannidou, I., Zetterberg, H., Bosch, A., & Kleopa, K. A. (2023) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2023.07.011 · Cited by 15 · see citing works
Jerath, N. U., & Shy, M. E. (2017) · Muscle & Nerve · doi:10.1002/mus.25600 · Cited by 10 · see citing works
Self-citationHereditary Neuromuscular Disorders in Reproductive Medicine
Luglio, A., Maggi, E., Riviello, F. N., Conforti, A., Sorrentino, U., & Zuccarello, D. (2024) · Genes · doi:10.3390/genes15111409 · Cited by 7 · see citing works
Lang, R. M., Chawla, R., Patel, S., Abrams, C. K., & Dobrowsky, R. T. (2024) · ACS Pharmacology & Translational Science · doi:10.1021/acsptsci.4c00464 · Cited by 2 · see citing works
Kontogeorgiou, Z., Kartanou, C., Rentzos, M., Kokotis, P., Anagnostou, E., Zambelis, T., Chroni, E., Dinopoulos, A., Πάνας, Μ., Koutsis, G., et al. (2023) · Journal of the Peripheral Nervous System · doi:10.1111/jns.12598 · Cited by 2 · see citing works
Sleep and Memory Disorders in a Patient Suffering from Charcot-Marie-Tooth Disease.
Florescu, C., Albu, C. V., Dumitrescu, C., Târtea, G. C., Florescu, O. A., & Târtea, E. A. (2017) · Europe PMC (PubMed Central) · doi:10.12865/chsj.43.01.11 · Cited by 1 · see citing works
Charcot‐Marie‐Tooth disease in children
Saylam, E., Ramani, P. K., Duvuru, R., Haley, B., & Veerapandiyan, A. (2024) · Annals of the Child Neurology Society · doi:10.1002/cns3.20093 · Cited by 1 · see citing works
(2016) · Muscle & Nerve · doi:10.1002/mus.24864
Polyneuropathies and Mononeuropathies Multiplex
Kimura, J., & Strakowski, J. A. (2025) · Oxford University Press eBooks · doi:10.1093/med/9780197658017.003.0024
Jumani, A. I., Rashwan, G., Ibrahim, H., Eissa, H., Abouelnaga, M. E., Alzaabi, A., & Elbashari, M. (2025) · Cureus · doi:10.7759/cureus.93582
Yao, T., Li, Y. I. F. E. I., Cheng, Y., Chen, X. Y., & Du, G. (2026) · BMC Pediatrics · doi:10.1186/s12887-026-07334-z
Transcriptomic Challenges We Faced with Animal Models for Neurological Disorders
Iacobaş, D. A., Iacobaş, S., & Daniels, D. E. N. (2026) · Current Issues in Molecular Biology · doi:10.3390/cimb48090857
- Authors
- Jerath, N. U., Gutmann, L., Reddy, C. G., & Shy, M. E.
- Affiliations
- University of Iowa (US)
- Corresponding author
- Jerath, Nivedita U.
- Venue
- Muscle & Nerve
- Publisher
- Wiley
- Published
- 2016-07-04
- Volume
- 54
- Issue
- 4
- Pages
- 728-732
- ISSN
- 0148-639X (ISSN-L)
- PMC
- PMC5588147
- OpenAlex
- W2271648242
- Cited by
- 18
- References
- 17
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 3 · 2023: 2 · 2021: 1 · 2020: 2 · 2019: 2 · 2017: 3 · 2016: 1
- FWCI
- 1.13
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Muscle & Nerve (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (U54NS065712)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Peripheral Nerve Disorders
- Health Sciences › Medicine › Neurology › Peripheral Neuropathies and Disorders
- Keywords
- sex differences, women, nerve conduction studies, motor nerve conduction velocity, conduction block, temporal dispersion, compound muscle action potential, age at presentation
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Charcot-Marie-Tooth Disease, Child, Electrodiagnosis, Female, Humans, Male, Middle Aged, Neural Conduction, Retrospective Studies, Sex Factors, Cohort Studies, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
