Category Archives: associations

AFIM – Italian Families Malignant Hyperthermia

0 in Mon, 27 January 2014, 10:49
The malignant hyperthermia (MH) is a pharmacogenetic disease of skeletal muscles, which is characterized by a hypermetabolic response to strong volatile anesthetic gases. The signs of MH include marked hyperthermia, tachycardia, tachypnea, increased carbon dioxide production, increase oxygen consumption, acidosis, muscle rigidity and rhabdomyolysis. This syndrome is inherited in an autosomal dominant fashion involving RYR-1 gene. Over 90 mutations have been identified in Continue Reading...
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Tuberous Sclerosis Volunteers’ group

0 in Mon, 27 January 2014, 10:48
Tuberous Sclerosis is an hereditary autosomal dominant disease with a prevalence of 1/10.000 born. The TSC is due to a defect in TSC2 gene (Tuberous Sclerosis Complex 2, located in p13.3 region of the chromosome 16) or in TSC1 gene (Tuberous Sclerosis Complex 1, located in q34 region of the chromosome 9). These genes are tumor suppressor genes and they encode respectively the Tuberin and Continue Reading...
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