Ipertermia Maligna

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Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.

Malignant hyperthermia (MH) is an autosomal dominant pharmacogenetic disorder of skeletal muscle characterized by disturbance of intracellular calcium homeostasis in the sarcoplasmic reticulum. Mutations of the ryanodine receptor 1 (RYR1) gene account for most cases, with some studies claiming up to 86% of mutations in…

Rivista: Clin Genet. 2011 May;79(5):438-47. doi: 10.1111/j.1399-0004.2010.01493.x.

Data: 02-05-2011

Categoria: Ipertermia Maligna

Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.

Point mutations in the ryanodine receptor (RYR1) gene are associated with malignant hyperthermia, an autosomal dominant disorder triggered in susceptible people (MHS) by volatile anaesthetics and depolarising skeletal muscle relaxants. To date, 17 missense point mutations have been identified in the human RYR1 gene by…

Rivista: J Med Genet. 1999 Feb;36(2):115-8.

Data: 01-02-1999

Categoria: Ipertermia Maligna

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.

BACKGROUND: Malignant hyperthermia (MH) is a fatal autosomal dominant pharmacogenetic disorder characterized by skeletal muscle hypertonicity that causes a sudden increase in body temperature after exposure to common anesthetic agents. The disease is genetically heterogeneous, with mutations in the gene encoding the skeletal muscle ryanodine…

Rivista: Clin Chem. 2003 May;49(5):761-8.

Data: 05-05-2003

Categoria: Ipertermia Maligna

Follow-up of patients tested for malignant hyperthermia susceptibility.

BACKGROUND AND OBJECTIVE: Malignant hyperthermia is an inherited disorder of skeletal muscle characterized by muscle contracture and hypermetabolic crisis following exposure to halogenated anaesthetics and depolarizing muscle relaxants. We planned this follow-up to get more information about the safety of non-triggering anaesthesia in susceptible patients;…

Rivista: Eur J Anaesthesiol. 2006 Sep;23(9):801-5

Data: 19-06-2006

Categoria: Ipertermia Maligna

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