Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family
- PMID: 12062259
- DOI: 10.1016/s0960-8966(01)00305-4
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family
Abstract
Charcot- Marie-Tooth disease type 2 is clinically and genetically heterogeneous. A particular clinical subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by diaphragm and vocal cord paralysis, is labelled Charcot-Marie-Tooth disease type 2C but no genetic locus has been mapped for this form. We describe the first European family affected by Charcot-Marie-Tooth disease type 2C. Genetic analysis excluded linkage to locus of Charcot-Marie-Tooth disease type 2A, B, D, E and F, and to locus of distal hereditary motor neuronopathy type VII. In this family the disease has high penetrance, variable severity and apparently the most severe limb muscle involvement in the youngest generation. Vocal cord paralysis is unrelated to the degree of muscular weakness and patients with the most severe muscle involvement have absent or minimal respiratory symptoms. Charcot-Marie-Tooth disease type 2C is clinically and genetically different from Charcot-Marie-Tooth disease type 2A, B, D, E and F, and is not allelic with distal hereditary motor neuronopathy type VII.
Similar articles
-
Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease.Lung. 2007 Jan-Feb;185(1):1-7. doi: 10.1007/s00408-006-0053-9. Epub 2007 Feb 9. Lung. 2007. PMID: 17294338 Review.
-
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.Neuromuscul Disord. 2004 Apr;14(4):261-4. doi: 10.1016/j.nmd.2004.01.003. Neuromuscul Disord. 2004. PMID: 15019704
-
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.Brain. 2011 Jul;134(Pt 7):1959-71. doi: 10.1093/brain/awr148. Brain. 2011. PMID: 21705420 Free PMC article.
-
Laryngeal electromyographic findings in Charcot-Marie-Tooth disease type II.Arch Neurol. 1999 Jul;56(7):863-5. doi: 10.1001/archneur.56.7.863. Arch Neurol. 1999. PMID: 10404989
-
Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.Neuromuscul Disord. 2017 May;27(5):487-491. doi: 10.1016/j.nmd.2017.01.006. Epub 2017 Jan 16. Neuromuscul Disord. 2017. PMID: 28190646 Free PMC article. Review.
Cited by
-
Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease.Lung. 2007 Jan-Feb;185(1):1-7. doi: 10.1007/s00408-006-0053-9. Epub 2007 Feb 9. Lung. 2007. PMID: 17294338 Review.
-
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.J Neurol. 2011 Aug;258(8):1413-21. doi: 10.1007/s00415-011-5947-7. Epub 2011 Feb 19. J Neurol. 2011. PMID: 21336783
-
The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management.Appl Clin Genet. 2015 Oct 19;8:235-43. doi: 10.2147/TACG.S69969. eCollection 2015. Appl Clin Genet. 2015. PMID: 26527893 Free PMC article. Review.
-
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037586 Free PMC article.
-
A review of genetic counseling for Charcot Marie Tooth disease (CMT).J Genet Couns. 2013 Aug;22(4):422-36. doi: 10.1007/s10897-013-9584-4. Epub 2013 Apr 21. J Genet Couns. 2013. PMID: 23604902 Review.
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources
Medical
