Article
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions.
Neuromuscular disorders : NMD - 1 Oct 2016
Tincheva Savina, Georgieva Bilyana, Todorov Tihomir, Savov Alexey, Tsaneva Slavena, Litvinenko Ivan, Mitev Vanyo, Todorova Albena
Abstract excerpt
Myotonia congenita type Becker is an autosomal recessive nondystrophic skeletal muscle disorder, caused by mutations in the CLCN1 gene. The disease is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Here we report the results from molecular genetic testing of 6 families, referred for sequencing of the CLCN1 gene. The disease causing mutations were detected in...
Topics
- Adult
- Bulgaria
- Child
- Child, Preschool
- Chloride Channels
- Endemic Diseases
- Family
- Female
- Genetic Testing
- Humans
- Male
- Mutation
- Myotonia Congenita