Two Families with Myotonia

Hypothyroidism with true myotonia.

A patient with subclinical hypothyroidism who presented with true myotonia is described. There was no evidence that either he or members of his family had dystrophia myotonica or myotonia congenita. Treatment with thyroxine resolved his symptoms completely.

Colchicine-induced myopathy with myotonia.

Patient: A 79-year-old man presented with progressive weakness especially in the muscles of his lower limbs for about ten days before admission. He was diabetic, hypertensive and had coronary arterial disease with congestive heart failure for many years. He also had chronic renal insufficiency with a serum creatinine of 1.9 mg/dL. He had been treated with colchicine for gouty arthritis for the ...

Myotonia fluctuans.

Autosomal-dominantly inherited nondystrophic myotonic disorders are an interesting group of muscle diseases that provide considerable opportunity for future molecular genetic studies to identify the genes responsible for specific membrane functions. A family with such a myotonic disorder is described with features that are distinctly different from myotonia congenita and paramyotonia congenita....

Myotonia Acquisita

Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis

Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...