Pregnancy in women with myotonia congenita
β Scribed by Abhijit Basu; Prathibha Nishanth; Olufela Ifaturoti
- Book ID
- 116554655
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 95 KB
- Volume
- 106
- Category
- Article
- ISSN
- 0020-7292
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## Abstract Myotonia congenita is a hereditary chloride channel disorder characterized by delayed relaxation of skeletal muscle (myotonia). It is caused by mutations in the skeletal muscle chloride channel gene __CLCN1__ on chromosome 7. The phenotypic spectrum of myotonia congenita ranges from mil
We investigated electrophysiologically the unaffected parents of patients with recessive myotonia congenita. We studied 18 families, in nine of which the diagnosis was confirmed by molecular genetics. Brief myotonic discharges were present in at least one parent in 67% of the families. Fathers were