The congenital myopathies are a sub-group of neuromuscular conditions that affect skeletal muscle. This group of disorders are often, but not always, present at birth. Hence the name congenital myopathies.

The congenital myopathies are similar in nature, often causing muscle weakness and low muscle tone of varying degrees. Diagnosis is usually made from a muscle biopsy. In these, specific myopathic findings such as nemaline rods or central cores can be observed. These findings allow determination of the type of congenital myopathy that is present.The congenital myopathies are a sub-group of neuromuscular conditions that affect skeletal muscle. This group of disorders are often, but not always, present at birth. Hence the name congenital myopathies.

In the Beggs laboratory, we are interested in determining the genes that are involved in the cause of these congenital myopathies. By clicking on the links above, you will be taken to general information as well as a description of our research studies on each disease.