Article
Charcot-Marie-Tooth disease subtypes and genetic testing strategies.
Annals of neurology - 1 Jan 2011
Saporta Anita S D, Sottile Stephanie L, Miller Lindsey J, Feely Shawna M E, Siskind Carly E, Shy Michael E
Abstract excerpt
OBJECTIVE: Charcot-Marie-Tooth disease (CMT) affects 1 in 2,500 people and is caused by mutations in more than 30 genes. Identifying the genetic cause of CMT is often necessary for family planning, natural history studies, and for entry into clinical trials. However genetic testing can be both expensive and confusing to patients and physicians. METHODS: We analyzed data from 1,024 of our patients to determine the...
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