Familial RYR 1 mutation associated with mild and severe central core disease.
Erendzhinova
Ekaterina
E
Department of Pediatrics, College of Medicine, University of Saskatchewan, Saskatoon, SK, Canada.
Robinson
Christopher A
CA
Lowry
Noel J
NJ
Lemire
Edmond G
EG
D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D006801:Humans; D007223:Infant; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics*; D020512:Myopathy, Central Core / Q000235:genetics* / Q000473:pathology; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D012720:Severity of Illness Index
D019837:Ryanodine Receptor Calcium Release Channel