The coiled-coil-helix-coiled-coil-helix domain-containing 2 (CHCHD2; also known as mitochondrial nuclear retrograde regulator 1 [MNRR1], Parkinson's disease 22 [PARK22] and aging-associated gene 10 protein [AAG10]) is a protein that binds to CcO from the intermembrane space and positively ...
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. Muscle Nerve. 2009;40(4):633-639.PubMedGoogle ScholarCrossref 39. Kraeva N, Riazi S, Loke J, et al. Ryanodine receptor type 1 gene mutations found in the Can...
- 《Anesthesia & Analgesia》 被引量: 55发表: 2013年 The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. It has been suggested that exertional rhabdomyolysis (ER) and malignant hyperthermia (MH) are related ...
MYOPLASMIC CALCIUM CONTROL IN NORMAL HUMAN MUSCLE CELLS AND IN CELLS WITH AN ARG163CYS MUTATION OF THE RYR1 GENEpercutaneous dilatational tracheostomytracheoarterial fistulacuff pressurefracture of tracheal cartilageAn abstract is unavailable.doi:10.1097/00000539-199902001-00315K. Censier...
RyR1 gene-related myopathy, high possibility of multi-minicore disease and being susceptible to malignant hyperthermia.Posterior cervical orthopedic internal fixation surgery was successfully performed under total intravenous anesthesia with propofol.The vital signs were stable during anesthesia and operation wh...
A large number of mutations have been identified in the corresponding gene (RYR1) giving rise to a variety of clinical phenotypes: Malignant Hyperthermia susceptibility (MHS) and the group of congenital (core) myopathies. Materials and methods In 1992, we began to screen MHS individual by PCR ...
Romero6, John Rendu1, Vincent Jacquemond3, Julien Fauré1 and Isabelle Marty1* Abstract Mutations in the RYR1 gene, encoding the skeletal muscle calcium channel RyR1, lead to congenital myopathies, through expression of a channel with abnormal permeability and/or in ...
From a total series of 86 CCD-families, we have identified 46 CCD families with RYR1 mutations (16 autosomal dominant, 8 autosomal recessive, 17 sporadic cases and 5 de novo mutations). Out of the other 40 CCD families, the RyR1 gene was entirely excluded in 7 families, by cDNA ...
Am.J.Hum.Genet.69:204–208,2001 204 Report Single-Amino-AcidDeletionintheRYR1Gene,AssociatedwithMalignant HyperthermiaSusceptibilityandUnusualContractionPhenotype NyamkhishigSambuughin, 1 ShonaMcWilliams, 1 AstriddeBantel, 1 KumaraswamySivakumar, 1 andThomasE.Nelson 2 1 BarrowNeurologicalInstitute,Phoenix;...
6. Children are more likely than adults to experience an MH episode in response to anesthesia7. Most mutations that underlie human MHS are in the skeletal muscle Ca2+release channel (RYR1)8,9. Triggers such as volatile anesthetics and/or heat cause the uncontrolled release of Ca2+from the ...