Muscle hypertrophy in myotonia congenita

Recessively inherited myotonia congenita.

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...

Phenotypic variability in myotonia congenita.

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 mild myotonia disclosed only by clinical examination to severe and disabling myotonia with transient weakness and myo...