Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.
Gambelli
S
S
Malandrini
A
A
Berti
G
G
Gaudiano
C
C
Zicari
E
E
Brunori
P
P
Perticoni
G
G
Orrico
A
A
Galli
L
L
Sorrentino
V
V
Lunardi
J
J
Federico
A
A
Dotti
M T
MT
D000328:Adult; D002851:Chromatography, High Pressure Liquid; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000473:pathology*; D016133:Polymerase Chain Reaction; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D017422:Sequence Analysis, DNA
D019837:Ryanodine Receptor Calcium Release Channel