A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity

Cell Calcium

Volumn 45, Issue 2, 2009, Pages 192-197

  Ghassemi, Farshid ^a,b   Vukcevic, Mirko ^c   Xu, Le ^a,b   Zhou, Haiyan ^d   Meissner, Gerhard ^a,b   Muntoni, Francesco ^d   Jungbluth, Heinz ^e   Zorzato, Francesco ^f   Treves, Susan ^c  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^f UNIVERSITY OF FERRARA   (Italy)

Author keywords

Central core disease; Dihydropyridine receptor; Functional coupling; Mutation; Ryanodine receptor

Indexed keywords

ARGININE; LEUCINE; MYOD PROTEIN; POTASSIUM CHLORIDE; RYANODINE RECEPTOR 1;

ADOLESCENT; ALLOSTERISM; AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM CELL LEVEL; CALCIUM HOMEOSTASIS; CALCIUM TRANSPORT; CASE REPORT; CENTRAL CORE DISEASE; CHANNEL GATING; CONTROLLED STUDY; DEPOLARIZATION; EXCITATION CONTRACTION COUPLING; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MUSCLE BIOPSY; MUSCLE CHANNELOPATHY; MYOTUBE; PRIORITY JOURNAL; SCOLIOSIS; TENDON CONTRACTURE;

EID: 58549113775     PISSN: 01434160     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ceca.2008.10.001     Document Type: Article

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