Muscle pathology of myotonia congenita
โ Scribed by Jerry Crews; Kenneth K. Kaiser; Michael H. Brooke
- Book ID
- 118928455
- Publisher
- Elsevier Science
- Year
- 1976
- Tongue
- English
- Weight
- 590 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0022-510X
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
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
Twenty-five Turkish patients with recessive myotonia congenita (RMC), 16 of whom had genetic confirmation, were studied. Nineteen had transient weakness. In the upper extremities, onset age of transient weakness was usually in the early teens. All untreated RMC patients had a compound muscle action