Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease

Neuromuscular Disorders

Volumn 23, Issue 2, 2013, Pages 120-132

  Kraeva, Natalia ^a   Zvaritch, Elena ^b   Rossi, Ann E ^c   Goonasekera, Sanjeewa A ^c   Zaid, Hilal ^b,d,e   Frodis, Wanda ^a   Kraev, Alexander ^b   Dirksen, Robert T ^c   MacLennan, David H ^b   Riazi, Sheila ^a,b  

^a TORONTO GENERAL HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^d Al Qasemi Academy   (Israel)

^e ARAB AMERICAN UNIVERSITY   (Palestine)

Author keywords

Calcium transport; Central core disease; Congenital myopathies; Excitation contraction coupling; Ryanodine receptor type 1

Indexed keywords

CALCIUM CHANNEL; CALCIUM ION; GENOMIC DNA; RNA; RYANODINE RECEPTOR 1;

ADOLESCENT; ADULT; ARTICLE; BIOINFORMATICS; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CELL MEMBRANE PERMEABILITY; CELL STRAIN HEK293; CENTRAL CORE DISEASE; CHANNEL GATING; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXCITATION CONTRACTION COUPLING; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; MALE; MOLECULAR PATHOLOGY; MYOTUBE; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RYR1 GENE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT; WESTERN BLOTTING;

ADOLESCENT; ADULT; CALCIUM; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC TESTING; HEK293 CELLS; HOMEOSTASIS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE CONTRACTION; MUSCLE FIBERS, SKELETAL; MUTATION; MYOPATHY, CENTRAL CORE; PEDIGREE; POLYMORPHISM, GENETIC; RETROSPECTIVE STUDIES; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84873173629     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.08.007     Document Type: Article

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