Identification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia | Zendy

Iveta Valášková | Zendy; Silvie Dudová | Zendy; Jaecasova | Zendy; Edita Ošťádalová | Zendy; Martina Vanaskova | Zendy; Dagmar Štěpánková | Zendy; Ivana Schröderová | Zendy; Renata Gaillyová | Zendy; Petr Kuglík | Zendy

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Identification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia

Author(s) -

Iveta Valášková,

Silvie Dudová,

Jaecasova,

Edita Ošťádalová,

Martina Vanaskova,

Dagmar Štěpánková,

Ivana Schröderová,

Renata Gaillyová,

Petr Kuglík

Publication year - 2013

Publication title -

isrn genetics

Language(s) - English

Resource type - Journals

ISSN - 2090-8687

DOI - 10.5402/2013/481757

Subject(s) - ryr1 , malignant hyperthermia , ryanodine receptor , phenotype , mutation , gene , cancer research , biology , skeletal muscle , genetics , identification (biology) , receptor , medicine , endocrinology , pathology , botany

Malignant hyperthermia (MH) is a potentially fatal autosomal dominant disorder of the skeletal muscle and is triggered in susceptible individuals by commonly used inhalation anaesthetics and depolarizing muscle relaxants. Around 80% of the affected family are linked to the ryanodine receptor ( RYR1 ) gene. More than 300 mutations in RYR1 have been associated with the MH-susceptible phenotype. Here we report the identification by two independent methods of a novel mutation associated with the MH-susceptible phenotype in the RYR1 gene.

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