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

Muscle and Nerve

Volumn 40, Issue 4, 2009, Pages 633-639

  Carpenter, Danielle ^a   Ismail, Azzam ^b   Robinson, Rachel L ^a   Ringrose, Christopher ^a   Booms, Patrick ^c   Iles, David E ^c   Halsall, P Jane ^a   Steele, Derek ^c   Shaw, Marie Anne ^c   Hopkins, Philip M ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b LEEDS GENERAL INFIRMARY   (United Kingdom)

^c UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

Indian subcontinent; King Denborough syndrome; Malignant hyperthermia (MH); Myopathy; RYR1

Indexed keywords

ADULT; ARTICLE; ASIAN; AUTOSOMAL DOMINANT INHERITANCE; CHILD; FEMALE; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MALIGNANT HYPERTHERMIA; MUSCLE BIOPSY; MYOPATHY; PRIORITY JOURNAL; RYR1 GENE;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CONSANGUINITY; DNA; DNA, COMPLEMENTARY; FAMILY; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MALIGNANT HYPERTHERMIA; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; PEDIGREE; PHENOTYPE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SPASM;

EID: 70349329323     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21397     Document Type: Article

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