Literature DB >> 19645060

A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.

Danielle Carpenter1, Azzam Ismail, Rachel L Robinson, Christopher Ringrose, Patrick Booms, David E Iles, P Jane Halsall, Derek Steele, Marie-Anne Shaw, Philip M Hopkins.   

Abstract

In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic symptoms.

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Year:  2009        PMID： 19645060     DOI： 10.1002/mus.21397

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


  9 in total

1.  Clinical utility gene card for: Central core disease.

Authors:  Suzanne Lillis; Stephen Abbs; Clemens R Mueller; Francesco Muntoni; Heinz Jungbluth
Journal:  Eur J Hum Genet       Date:  2011-10-12       Impact factor: 4.246

2.  Genetic epidemiology of malignant hyperthermia in the UK.

Authors:  D M Miller; C Daly; E M Aboelsaod; L Gardner; S J Hobson; K Riasat; S Shepherd; R L Robinson; J G Bilmen; P K Gupta; M-A Shaw; P M Hopkins
Journal:  Br J Anaesth       Date:  2018-08-17       Impact factor: 9.166

3.  Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle.

Authors:  Genaro C Barrientos; Wei Feng; Kim Truong; Klaus I Matthaei; Tianzhong Yang; Paul D Allen; José R Lopez; Isaac N Pessah
Journal:  J Biol Chem       Date:  2011-12-02       Impact factor: 5.157

4.  Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage.

Authors:  Benjamin Yuen; Simona Boncompagni; Wei Feng; Tianzhong Yang; Jose R Lopez; Klaus I Matthaei; Samuel R Goth; Feliciano Protasi; Clara Franzini-Armstrong; Paul D Allen; Isaac N Pessah
Journal:  FASEB J       Date:  2011-11-30       Impact factor: 5.191

5.  Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.

Authors:  Georgirene D Vladutiu; Paul J Isackson; Kenneth Kaufman; John B Harley; Beth Cobb; Lisa Christopher-Stine; Robert L Wortmann
Journal:  Mol Genet Metab       Date:  2011-07-12       Impact factor: 4.797

6.  RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.

Authors:  Sherin Shaaban; Leigh Ramos-Platt; Floyd H Gilles; Wai-Man Chan; Caroline Andrews; Umberto De Girolami; Joseph Demer; Elizabeth C Engle
Journal:  JAMA Ophthalmol       Date:  2013-12       Impact factor: 7.389

Review 7.  Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.

Authors:  Sheila Riazi; Natalia Kraeva; Philip M Hopkins
Journal:  Anesthesiology       Date:  2018-01       Impact factor: 7.892

8.  Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Authors:  Dorota Fiszer; Marie-Anne Shaw; Nickla A Fisher; Ian M Carr; Pawan K Gupta; Elizabeth J Watkins; Daniel Roiz de Sa; Jerry H Kim; Philip M Hopkins
Journal:  Anesthesiology       Date:  2015-05       Impact factor: 7.892

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
  9 in total

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