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Malignant hyperthermia's inheritance is autosomal dominant with variable penetrance. [5] The defect is typically located on the long arm of chromosome 19 (19q13.2 [10]) involving the ryanodine receptor. [5] More than 25 different mutations in this gene are linked with malignant hyperthermia. [5]
Schwartz–Jampel syndrome (SJS, also known as chondrodystrophic myotonia) is a rare genetic disease caused by a mutation in the perlecan gene (HSPG2) [1] which causes osteochondrodysplasia associated with myotonia. [2] Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy. [3]
Malignant hyperthermia has an incidence of between 1:10,000 and 1:250,000 worldwide, but 1:200 at Palmerston North Hospital due to a large family in the area carrying the gene for many generations. Stowell's work has largely concentrated on identifying the genetic basis for MH susceptibility, and developing genetic testing to replace the ...
The bidirectional ventricular tachycardia associated with this condition was described in 1975. [1] The term "Catecholaminergic Polymorphic Ventricular Tachycardia" was first used in 1978. [ 5 ] In 1999, the first genetic mutation causing CPVT to be identified was localised to chromosome 1q42-q43, [ 31 ] which was found to be a variant in the ...
Histopathologic appearance of typical central core disease: NADH-TR, transverse section from the rectus femoris. Marked predominance of dark staining, high oxidative type 1 fibres with cores affecting the majority of fibres. Cores are typically well demarcated and centrally located (→), but may occasionally be multiple and of eccentric location.
Central core disease has been found to be allelic with malignant hyperthermia, [11] which is a life-threatening anesthetic reaction that causes a rise in body temperature, muscular rigidity and muscular breakdown, grossly elevated creatine kinase, and acidosis. Central core disease is caused by a mutation in the RYR1 gene. [1]
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]
Porcine stress syndrome, also known as malignant hyperthermia or PSS, is a condition in pigs. It is characterised by hyperthermia triggered by stress, anaesthesia with halothane or intense exercise. PSS may appear as sudden death in pigs, often after transport.