January 1, 2002The Japanese Journal of PharmacologyOpen Access

Novel Mutations in C-terminal Channel Region of the Ryanodine Receptor in Malignant Hyperthermia Patients

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Structured PICO

Population

2 patients with malignant hyperthermia (MH) with extremely high Ca2+-induced Ca2+ release (CICR) rates in biopsied skeletal muscles and a clear history of MH incidence; rabbit RyR1 channels expressed in CHO cells for functional assay

Intervention

Genetic analysis of all 106 exons of the RyR1 gene and functional assay of identified mutations (Pro4668 to Ser and Leu4838 to Val)

Outcome

Identification of RyR1 mutations and their effect on Ca2+ release activitysurrogate

Discussion

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Implication

The L4838V mutation in the RyR1 gene is a novel mutation within a hydrophobic transmembrane segment responsible for malignant hyperthermia incidence.

Cite This Study

Oyamada et al. (2002) studied this question.

synapsesocial.com/papers/6a70443db27f158178274650 https://doi.org/10.1254/jjp.88.159

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Implication

The L4838V mutation in the RyR1 gene is a novel mutation within a hydrophobic transmembrane segment responsible for malignant hyperthermia incidence.

Novel Mutations in C-terminal Channel Region of the Ryanodine Receptor in Malignant Hyperthermia Patients

Structured PICO

Discussion

Implication

Cite This Study

Novel Mutations in C-terminal Channel Region of the Ryanodine Receptor in Malignant Hyperthermia Patients

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider