RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling

Human Mutation

Volumn 34, Issue 7, 2013, Pages 986-996

  Zhou, Haiyan ^a   Rokach, Ori ^b   Feng, Lucy ^a   Munteanu, Iulia ^a   Mamchaoui, Kamel ^c   Wilmshurst, Jo M ^d   Sewry, Caroline ^a   Manzur, Adnan Y ^a   Pillay, Komala ^d   Mouly, Vincent ^b   Duchen, Michael ^e   Jungbluth, Heinz ^f,g,h   Treves, Susan ^b,i   Muntoni, Francesco ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c SORBONNE UNIVERSITÉ   (France)

^d UNIVERSITY OF CAPE TOWN   (South Africa)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^g KING'S COLLEGE LONDON   (United Kingdom)

^h KING'S COLLEGE LONDON   (United Kingdom)

ⁱ UNIVERSITY OF FERRARA   (Italy)

Author keywords

Congenital myopathies; Dihydropyridine; Ryanodine receptor; RYR1

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; CALCIUM CHANNEL; INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR; RYANODINE RECEPTOR 1; SMALL INTERFERING RNA;

ARTICLE; CALCIUM DEFICIENCY; CALCIUM HOMEOSTASIS; CALCIUM TRANSPORT; CELL IMMORTALIZATION; CELL LINE; DOWN REGULATION; EXCITATION CONTRACTION COUPLING; HUMAN; HUMAN CELL; MUSCLE BIOPSY; MYOBLAST; MYOPATHY; MYOTUBE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKELETAL MUSCLE; UPREGULATION;

BIOPSY; CALCIUM; CALCIUM CHANNELS, L-TYPE; CELLS, CULTURED; EXCITATION CONTRACTION COUPLING; GENE EXPRESSION REGULATION; HUMANS; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTORS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; MYOBLASTS; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; UP-REGULATION;

EID: 84879419050     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22326     Document Type: Article

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