Central core disease and susceptibility to malignant hyperthermia in a single family.
Colleoni
Lara
L
Melli
Giorgia
G
Morandi
Lucia
L
Cudia
Paola
P
Romaggi
Stefania
S
Mantegazza
Renato
R
Bernasconi
Pia
P
D000328:Adult; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005817:Genetic Counseling; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D007558:Italy; D008305:Malignant Hyperthermia / Q000235:genetics* / Q000503:physiopathology; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D020512:Myopathy, Central Core / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D035781:Siblings
D005819:Genetic Markers; D019837:Ryanodine Receptor Calcium Release Channel