Recessively inherited myotonia congenita.

Recessively inherited myotonia congenita.

Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita.

The cause of increased excitability in autosomal dominant myotonia congenita (MyC) was studied in resealed greater than 3-cm long segments of muscle fibres from eight patients. Three hours after biopsy only about 50% of the fibre segments had regained a normal resting potential. This differs from our experiences with normal muscle or other disorders of myotonia (e.g. recessive generalized myoto...

Thomsen and myotonia congenita.

Virgin's role in the story is that of a mother who uses medicine to treat her child,28 her selection of a remedy recommended by the most prominent medical authorities could scarcely have been more appropriate. The cure would still have been considered a miracle, although based on medical principles. Moreover, by using this device, Chaucer would have appealed to the intellectual capacities of hi...

Myotonia Congenita (Thomsen's Disease)

Myotonia congenita (Becker's variant).

A 21 year old right handed male resident of Bihar presented with 4 years history of gradual onset progressive st i f fness in both thighs and calves which improves on continued activity along with hypertrophy of muscles of all the limbs and dimpling on hitting over thigh and hands. He also has history of inability to walk fast or run and delayed opening of left eye after forceful closure of bot...