Skip to main content Accessibility help
×
Hostname: page-component-848d4c4894-cjp7w Total loading time: 0 Render date: 2024-06-26T14:04:36.188Z Has data issue: false hasContentIssue false

Early-Onset Hereditary Neuropathies

from Section 7 - Spinal and Neuromuscular Disorders

Published online by Cambridge University Press:  07 August 2021

Mirna Lechpammer
Affiliation:
New York University School of Medicine
Marc Del Bigio
Affiliation:
University of Manitoba, Canada
Rebecca Folkerth
Affiliation:
New York University School of Medicine
Get access
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2021

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Rossor, AM, Tomaselli, PJ, Reilly, MM. Recent advances in the genetic neuropathies. Curr Opin Neurol. 2016;29(5):537–48.Google Scholar
Dowling, JJ, Gonorazky HD, , Cohn, RD, Campbell, C. Treating pediatric neuromuscular disorders: the future is now. Am J Med Genet A. 2018;176(4):804–41.CrossRefGoogle ScholarPubMed
Arnold, WD, Isfort, M, Roggenbuck, J, Hoyle, JC. The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management. Appl Clin Genet. 2015;8:235–43.Google Scholar
Bird, TD. Charcot-Marie-Tooth (CMT) hereditary neuropathy overview. GeneReviews. (Initial posting: September 28, 1998; Last revision: January 24, 2019.) www.ncbi.nlm.nih.gov/books/NBK1358/.Google Scholar
Boerkoel, CF, Takashima, H, Stankiewicz, P, Garcia, CA, Leber, SM, Rhee-Morris, L, et al. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001;68(2):325–33.Google Scholar
Katona, I, Weis, J. Diseases of the peripheral nerves. Handb Clin Neurol. 2017;145:453–74.Google Scholar
Charnas, L, Trapp, B, Griffin, J. Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita. Neurology. 1988;38(6):966–74.CrossRefGoogle ScholarPubMed
Lebo, RV. Prenatal diagnosis of Charcot-Marie-Tooth disease. Prenat Diagn. 1998;18(2):169–72.3.0.CO;2-1>CrossRefGoogle ScholarPubMed
Dello Russo, C, Padula, F, Di Giacomo, G, Mesoraca, A, Gabrielli, I, Bizzoco, D, Giorlandino, C. A new approach for next generation sequencing in prenatal diagnosis applied to a case of Charcot-Marie-Tooth syndrome. Prenat Diagn. 2015;35(10):1018–21.CrossRefGoogle ScholarPubMed
Amato, AA, Russel, JA. Neuromuscular Disorders, 2nd edition. McGraw-Hill Education, New York; 2016.Google Scholar
Azmaipairashvili, Z, Riddle, EC, Scavina, M, Kumar, SJ. Correction of cavovarus foot deformity in Charcot-Marie-Tooth disease. J Pediatr Orthop. 2005;25(3):360–5.CrossRefGoogle ScholarPubMed
Ghamdi, M, Armstrong, DL, Miller, G. Congenital hypomyelinating neuropathy: a reversible case. Pediatr Neurol. 1997;16(1):71–3.Google Scholar
Levy, BK, Fenton, GA, Loaiza, S, Hayat, GR. Unexpected recovery in a newborn with severe hypomyelinating neuropathy. Pediatr Neurol. 1997;16(3):245–8.Google Scholar
Phillips, JP, Warner, LE, Lupski, JR, Garg, BP. Congenital hypomyelinating neuropathy: two patients with long-term follow-up. Pediatr Neurol. 1999;20(3):226–32.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×