Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Neuromuscular Disorders

Volumn 19, Issue 5, 2009, Pages 344-347

  Jungbluth, Heinz ^a,b   Lillis, Suzanne ^c   Zhou, Haiyan ^d   Abbs, Stephen ^c   Sewry, Caroline ^e   Swash, Michael ^f   Muntoni, Francesco ^d  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c GUY S HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

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

^f ROYAL LONDON HOSPITAL   (United Kingdom)

Author keywords

Axial myopathy; Central Core Disease (CCD); Multi minicore Disease (MmD); Skeletal muscle ryanodine receptor (RYR1) gene

Indexed keywords

RYANODINE RECEPTOR;

AGED; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; GENE SEQUENCE; HUMAN; HUMAN TISSUE; MALE; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

AGE FACTORS; AGE OF ONSET; AGED; CALCIUM SIGNALING; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; GENES, DOMINANT; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HUMANS; INCLUSION BODIES; MALE; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; MUTATION; MYOPATHY, CENTRAL CORE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 67349228165     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.02.005     Document Type: Article

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