Charcot-Marie-Tooth disease type 2C
- CMT 2C
- Charcot-Marie-Tooth disease, axonal, Type 2C
- Hereditary motor and sensory neuropathy 2 C
- HMSN 2 C
- Charcot Marie Tooth disease type 2C
Charcot-Marie-Tooth disease type 2C (CMT2C) is a very rare form of CMT. Individuals with this condition may have diaphragm or vocal cord paresis in addition to the other problems associated with CMT. Mild sensory loss has also been noted in some individuals. CMT type 2C is caused by mutations in the TRPV4 gene on chromosome 12q24.
- Charcot-Marie-Tooth disease. Genetics Home Reference (GHR). January 2010; http://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease. Accessed 6/3/2011.
- Bird, TD. Charcot-Marie-Tooth Neuropathy Type 2. GeneReviews. March 2011; http://www.ncbi.nlm.nih.gov/books/NBK1285/. Accessed 6/3/2011.
- Types and Causes of CMT . Charcot-Marie-Tooth Association Resource Center. October 2010; http://www.cmtausa.org/index.php?option=com_content&view=article&id=75&catid=10&Itemid=51. Accessed 6/3/2011.
- Genetics Home Reference (GHR) contains information on Charcot-Marie-Tooth disease type 2C. This website is maintained by the National Library of Medicine.
- The Muscular Dystrophy Association has developed an information page entitled "Surgery Sometimes, Bracing Often, Caution Always: Caring for the CMT-affected Foot." Click on Muscular Dystrophy Association to view this information page.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Charcot-Marie-Tooth disease type 2C. Click on the link to view a sample search on this topic.