Clinical utility gene card for: Multi-minicore disease.
GSTS Pathology, London, UK.
Suzanne
S
Lillis
Steve
S
Abbs
Ana
A
Ferreiro
Francesco
F
Muntoni
Heinz
H
Jungbluth
D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D002888:Chromosomes, Human, Pair 19; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D011379:Prognosis; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D051140:Selenoproteins / Q000235:genetics*; D012680:Sensitivity and Specificity
D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel; C435489:SELENON protein, human; D051140:Selenoproteins