title: Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.
authors.forename: S
authors.initials: S
authors.lastname: Gambelli
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: G
authors.initials: G
authors.lastname: Berti
authors.forename: C
authors.initials: C
authors.lastname: Gaudiano
authors.forename: E
authors.initials: E
authors.lastname: Zicari
authors.forename: P
authors.initials: P
authors.lastname: Brunori
authors.forename: G
authors.initials: G
authors.lastname: Perticoni
authors.forename: A
authors.initials: A
authors.lastname: Orrico
authors.forename: L
authors.initials: L
authors.lastname: Galli
authors.forename: V
authors.initials: V
authors.lastname: Sorrentino
authors.forename: J
authors.initials: J
authors.lastname: Lunardi
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
mesh_terms: 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
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel