Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy

Neuromuscular Disorders

Volumn 25, Issue 7, 2015, Pages 567-576

  Kraeva, N ^a   Heytens, L ^b,c   Jungbluth, H ^d,e,f,g   Treves, S ^h   Voermans, N ⁱ   Kamsteeg, E ⁱ   Ceuterick de Groote, C ^b   Baets, J ^b,c,j   Riazi, S ^a,k  

^a TORONTO GENERAL HOSPITAL   (Canada)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^e KING'S COLLEGE LONDON   (United Kingdom)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g ST THOMAS HOSPITAL   (United Kingdom)

^h UNIVERSITY HOSPITAL BASEL   (Switzerland)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^j ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^k UNIVERSITY OF TORONTO   (Canada)

more..

Author keywords

Compound RYR1 heterozygosity; Core myopathies; Malignant hyperthermia

Indexed keywords

INHALATION ANESTHETIC AGENT; MUSCLE RELAXANT AGENT; RYANODINE RECEPTOR 1; RYANODINE RECEPTOR;

ALLELE; ARTICLE; BELGIUM; CANADA; CASE REPORT; CENTRAL CORE DISEASE; CENTRONUCLEAR MYOPATHY; CHILD; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; IN VITRO STUDY; MALIGNANT HYPERTHERMIA; MYOPATHY; NETHERLANDS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENICITY; PATIENT COUNSELING; PHARMACOGENETICS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; ADULT; CAUCASIAN; FAMILY; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; LEG; MALE; METABOLISM; MIDDLE AGED; PATHOLOGY; SKELETAL MUSCLE;

ADULT; CHILD; CHILD, PRESCHOOL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HETEROZYGOTE; HUMANS; LEG; MALE; MALIGNANT HYPERTHERMIA; MIDDLE AGED; MUSCLE, SKELETAL; MYOPATHY, CENTRAL CORE; PHENOTYPE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84930681745     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.04.007     Document Type: Article

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