Search results
Results from the WOW.Com Content Network
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder.The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles and rigidity. [1]
Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. [3] [4] Brody disease (a disease of ion pump transport) has symptoms similar to myotonia congenita, however, the delayed muscle relaxation is pseudo-myotonia as the EMG is normal ...
NMT is a diverse disorder. As a result of muscular hyperactivity, patients may present with muscle cramps, stiffness, myotonia-like symptoms (slow relaxation), associated walking difficulties, hyperhidrosis (excessive sweating), myokymia (quivering of a muscle), fasciculations (muscle twitching), fatigue, exercise intolerance, myoclonic jerks and other related symptoms.
VCOM-Virginia is located on 13 acres within the campus of Virginia Tech, [10] in the Virginia Tech Corporate Research Center. The college operates within a public/private collaboration with Virginia Tech, sharing resources for education, research, and student activities. On campus, the main building consists of 60,000 square feet. [10]
Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). [ 5 ] Chloride channel protein, skeletal muscle ( CLCN1 ) is a protein that in humans is encoded by the CLCN1 gene . [ 6 ]
Both universities are expected to increase the biomedical research.Recently, the school has taken ownership of three new research facilities over the past year for a total of over 80,000 square feet of dedicated biomedical engineering research and teaching space at both Virginia Tech and Wake Forest University.
The main campus of Virginia Tech is located in Blacksburg, Virginia; the central campus is roughly bordered by Prices Fork Road to the northwest, Plantation Road to the west, Main Street to the east, and U.S. Route 460 bypass to the south, although it also has several thousand acres beyond the central campus. The Virginia Tech campus consists ...
Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. [2] There are two types of Bethlem myopathy, based on which type of collagen is affected.