Polysaccharide storage myopathy phenotype in quarter horse-related breeds is modified by the presence of an RYR1 mutation

Neuromuscular Disorders

Volumn 19, Issue 1, 2009, Pages 37-43

  McCue, M E ^a   Valberg, S J ^a   Jackson, M ^a   Borgia, L ^a   Lucio, M ^a   Mickelson, J R ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Glycogen synthase; Glycogenosis; GYS1; Malignant hyperthermia; RYR1

Indexed keywords

CREATINE KINASE; POLYSACCHARIDE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BREEDING; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; EXPERIMENTAL ANIMAL; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; MALIGNANT HYPERTHERMIA; MYOPATHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

ANIMALS; DNA MUTATIONAL ANALYSIS; EXERCISE TEST; EXERCISE TOLERANCE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GLYCOGEN; GLYCOGEN STORAGE DISEASE; GLYCOGEN SYNTHASE; HORSE DISEASES; HORSES; INHERITANCE PATTERNS; MALE; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE; PHENOTYPE; RETROSPECTIVE STUDIES; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 58849142431     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.10.001     Document Type: Article

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