RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction

Revue Neurologique

Volumn 172, Issue 10, 2016, Pages 546-558

  Voermans, N C ^a   Snoeck, M ^b   Jungbluth, H ^c,d,e  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^c EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Exercise; Exertional rhabdomyolysis; Genetic; Myopathy; Rhabdomyolysis; Ryanodine receptor (RyR1); Skeletal muscle ryanodine receptor (RYR1) gene

Indexed keywords

RYANODINE RECEPTOR 1; RYANODINE RECEPTOR;

CLINICAL FEATURE; GENE MUTATION; HUMAN; NONHUMAN; PATHOPHYSIOLOGY; PATIENT CARE; REVIEW; RHABDOMYOLYSIS; SPORT; ADOLESCENT; ADULT; CASE REPORT; CHILD; CYCLING; EXERCISE; FEMALE; GENETIC SCREENING; GENETICS; MALE; MIDDLE AGED; MYALGIA; ONSET AGE; SKELETAL MUSCLE; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; BICYCLING; CHILD; FEMALE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MYALGIA; PHYSICAL EXERTION; RHABDOMYOLYSIS; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; YOUNG ADULT;

EID: 84994479371     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2016.07.018     Document Type: Review

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