Publications:

Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals.

British Journal Of Anaesthesia

Chang, Leon L; Daly, Catherine C; Miller, Dorota M DM; Allen, Paul D PD; Boyle, John P JP; Hopkins, Philip M PM; Shaw, Marie-Anne MA

Publication Date: 2019-05

Variant appearance in text: RYR1: 7879G>A

PubMed Link: 30916033

Variant Present in the following documents:

• Main text

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Genetic epidemiology of malignant hyperthermia in the UK.

British Journal Of Anaesthesia

Miller, D M DM; Daly, C C; Aboelsaod, E M EM; Gardner, L L; Hobson, S J SJ; Riasat, K K; Shepherd, S S; Robinson, R L RL; Bilmen, J G JG; Gupta, P K PK; Shaw, M-A MA; Hopkins, P M PM

Publication Date: 2018-10

Variant appearance in text: RYR1: 7879G>A; Val2627Met

PubMed Link: 30236257

Variant Present in the following documents:

• Main text

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Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.

Anesthesiology

Kim, Jerry H JH; Jarvik, Gail P GP; Browning, Brian L BL; Rajagopalan, Ramakrishnan R; Gordon, Adam S AS; Rieder, Mark J MJ; Robertson, Peggy D PD; Nickerson, Deborah A DA; Fisher, Nickla A NA; Hopkins, Philip M PM

Publication Date: 2013-11

Variant appearance in text: RYR1: Val2627Met

PubMed Link: 24013571

Variant Present in the following documents:

• Main text

View BVdb publication page