Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Neuromuscular Disorders

Volumn 20, Issue 3, 2010, Pages 166-173

  Zhou, Haiyan ^a   Lillis, Suzanne ^b   Loy, Ryan E ^c   Ghassemi, Farshid ^d   Rose, Michael R ^e   Norwood, Fiona ^e   Mills, Kerry ^e   Al Sarraj, Safa ^e   Lane, Russell J M ^f   Feng, Lucy ^a   Matthews, Emma ^g   Sewry, Caroline A ^h   Abbs, Stephen ^b   Buk, Stefan ^e   Hanna, Michael ^g   Treves, Susan ⁱ   Dirksen, Robert T ^c   Meissner, Gerhard ^d   Muntoni, Francesco ^a   Jungbluth, Heinz ^j,k  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

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

^e KING S COLLEGE HOSPITAL   (United Kingdom)

^f CHARING CROSS HOSPITAL   (United Kingdom)

^g NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^h ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY HOSPITAL BASEL   (Switzerland)

^j ST THOMAS HOSPITAL   (United Kingdom)

^k KING'S COLLEGE LONDON   (United Kingdom)

more..

Author keywords

Excitation contraction coupling (ECC); Multi minicore disease (MmD); Periodic paralysis; Skeletal muscle ryanodine receptor (RYR1) gene

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; ARGININE; ASPARAGINE; ASPARTIC ACID; LYSINE; RYANODINE RECEPTOR 1;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; ELECTROMYOGRAM; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MISSENSE MUTATION; MULTIMINICORE DISEASE; MUSCLE ATROPHY; MUSCLE STIFFNESS; MYALGIA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PERIODIC PARALYSIS; PRIORITY JOURNAL; WEAKNESS;

ADULT; ARGININE; CAFFEINE; CALCIUM; CALCIUM CHANNELS; CALCIUM CHANNELS, L-TYPE; CELL LINE, TRANSFORMED; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX IV; FAMILY HEALTH; FEMALE; HUMANS; LYSINE; MALE; MEMBRANE POTENTIALS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PATCH-CLAMP TECHNIQUES; PHOSPHODIESTERASE INHIBITORS; RYANODINE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SODIUM CHANNELS; TRANSFECTION; TRITIUM;

EID: 77950517340     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.12.005     Document Type: Article

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