𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita

✍ Scribed by Davies, N P

Book ID
126501638
Publisher
BMJ Publishing Group
Year
2000
Tongue
English
Weight
402 KB
Volume
68
Category
Article
ISSN
0022-3050

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Paramyotonia congenita or hyperkalemic p
Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family
✍ Dr. Shari M. de Silva; Dr. Ralph W. Kuncl; Dr. John W. Griffin; Dr. David R. Cor πŸ“‚ Article πŸ“… 1990 πŸ› John Wiley and Sons 🌐 English βš– 565 KB

## Abstract The nosological distinction between paramyotonia congenita (PC) and hyperkalemic periodic paralysis (HPP) continues to generate debate. Recently, electrophysiological signs thought to be specific for each entity have been described and have been used to bolster the argument that the two

Molecular and genetic characterisation o
Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families
✍ Christof Meyer-Kleine; Michael Otto; Barbara Zoll; Manuela C. Koch πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 459 KB

Eighteen German families with a history of paramyotonia congenita (PC) were characterised by genetic und mutational analysis at the SCN4A locus, which encodes the ~-subunit of the adult skeletal muscle sodium channel. We concentrated our analysis primarily on these families to test the hypothesis th