title: Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy.
authors.affiliation: Department of Paediatric Neurology, Children's Hospital, Technical University Dresden, Fetscherstrasse 74, 01307, Dresden, Germany. Maja.v.d.Hagen@uniklinikum-dresden.de
authors.forename: Maja
authors.initials: M
authors.lastname: von der Hagen
authors.forename: Angela M
authors.initials: AM
authors.lastname: Kaindl
authors.forename: Kathrin
authors.initials: K
authors.lastname: Koehler
authors.forename: Petra
authors.initials: P
authors.lastname: Mitzscherling
authors.forename: Hans-Jürgen
authors.initials: HJ
authors.lastname: Häusler
authors.forename: Gisela
authors.initials: G
authors.lastname: Stoltenburg-Didinger
authors.forename: Angela
authors.initials: A
authors.lastname: Huebner
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000235:genetics*; D020125:Mutation, Missense; D009220:Myositis / Q000821:virology; D010430:Pentosyltransferases; D010641:Phenotype; D011506:Proteins / Q000235:genetics
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases