Article
Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.
Neuroepidemiology - 1 Jan 2017
Marttila Maria, Kytövuori Laura, Helisalmi Seppo, Kallio Mika, Laitinen Marjo, Hiltunen Mikko, Kärppä Mikko, Majamaa Kari
Abstract excerpt
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder with a population prevalence of 9.7-82.3/100,000. In this study, we have estimated the prevalence of CMT and its subtypes in Finland and examined the frequency of molecular etiologies. METHODS: A population-based survey included adult patients with peripheral neuropathy from the province of Northern Ostrobothnia,...
Topics
- Charcot-Marie-Tooth Disease
- Female
- Finland
- Gene Deletion
- Health Surveys
- Humans
- Male
- Molecular Epidemiology
- Myelin Proteins
- Phenotype
- Point Mutation