Literature DB >> 10823104

Malignant hyperthermia in infancy and identification of novel RYR1 mutation.

D Chamley1, N A Pollock, K M Stowell, R L Brown.   

Abstract

Malignant hyperthermia (MH) has been reported as non-existent in children less than 1 yr old, although several unconfirmed reports have been published. A case report of MH in a 6-month-old child is presented, with confirmation of MH susceptibility by in vitro contracture testing of quadriceps muscle at 13 yr old. Genetic analysis revealed a novel RYR1 mutation that substitutes arginine 2452 for tryptophan in a region of the calcium channel mutated in several other MH pedigrees.

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Year:  2000        PMID： 10823104     DOI： 10.1093/oxfordjournals.bja.a013478

Source DB:  PubMed          Journal:  Br J Anaesth        ISSN： 0007-0912            Impact factor:   9.166


  13 in total

1.  Effects of conformational peptide probe DP4 on bidirectional signaling between DHPR and RyR1 calcium channels in voltage-clamped skeletal muscle fibers.

Authors:  Rotimi O Olojo; Erick O Hernández-Ochoa; Noriaki Ikemoto; Martin F Schneider
Journal:  Biophys J       Date:  2011-05-18       Impact factor: 4.033

2.  Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area.

Authors:  Mark L Bannister; Tomoyo Hamada; Takashi Murayama; Peta J Harvey; Marco G Casarotto; Angela F Dulhunty; Noriaki Ikemoto
Journal:  Biochem J       Date:  2007-01-01       Impact factor: 3.857

3.  Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.

Authors:  N Sambuughin; S McWilliams; A de Bantel; K Sivakumar; T E Nelson
Journal:  Am J Hum Genet       Date:  2001-05-29       Impact factor: 11.025

4.  Screening for mutations in the RYR1 gene in families with malignant hyperthermia.

Authors:  Viviane P Muniz; Helga C A Silva; Ana Maria C Tsanaclis; Mariz Vainzof
Journal:  J Mol Neurosci       Date:  2003       Impact factor: 3.444

5.  Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis.

Authors:  Wenhe Li; Lin Zhang; Yue Liang; Fang Tong; Yiwu Zhou
Journal:  Forensic Sci Med Pathol       Date:  2017-11-04       Impact factor: 2.007

6.  Malignant hyperthermia.

Authors:  Dong-Chan Kim
Journal:  Korean J Anesthesiol       Date:  2012-11-16

Review 7.  Malignant hyperthermia.

Authors:  Henry Rosenberg; Mark Davis; Danielle James; Neil Pollock; Kathryn Stowell
Journal:  Orphanet J Rare Dis       Date:  2007-04-24       Impact factor: 4.123

Review 8.  Malignant hyperthermia: a review.

Authors:  Henry Rosenberg; Neil Pollock; Anja Schiemann; Terasa Bulger; Kathryn Stowell
Journal:  Orphanet J Rare Dis       Date:  2015-08-04       Impact factor: 4.123

9.  Genotype-phenotype correlations in recessive RYR1-related myopathies.

Authors:  Kimberly Amburgey; Angela Bailey; Jean H Hwang; Mark A Tarnopolsky; Carsten G Bonnemann; Livija Medne; Katherine D Mathews; James Collins; Jasper R Daube; Gregory P Wellman; Brian Callaghan; Nigel F Clarke; James J Dowling
Journal:  Orphanet J Rare Dis       Date:  2013-08-06       Impact factor: 4.123

10.  Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Authors:  Werner Klingler; Sebastian Heiderich; Thierry Girard; Elvira Gravino; James Ja Heffron; Stephan Johannsen; Karin Jurkat-Rott; Henrik Rüffert; Frank Schuster; Marc Snoeck; Vincenzo Sorrentino; Vincenzo Tegazzin; Frank Lehmann-Horn
Journal:  Orphanet J Rare Dis       Date:  2014-01-16       Impact factor: 4.123
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