title: Novel RYR1 missense mutation causes core rod myopathy.
authors.forename: M
authors.initials: M
authors.lastname: von der Hagen
authors.forename: W
authors.initials: W
authors.lastname: Kress
authors.forename: G
authors.initials: G
authors.lastname: Hahn
authors.forename: K S
authors.initials: KS
authors.lastname: Brocke
authors.forename: P
authors.initials: P
authors.lastname: Mitzscherling
authors.forename: A
authors.initials: A
authors.lastname: Huebner
authors.forename: C
authors.initials: C
authors.lastname: Müller-Reible
authors.forename: G
authors.initials: G
authors.lastname: Stoltenburg-Didinger
authors.forename: A M
authors.initials: AM
authors.lastname: Kaindl
mesh_terms: D000293:Adolescent; D000346:Afghanistan / Q000208:ethnology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel