Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy.
von der Hagen
Maja
M
Department of Paediatric Neurology, Children's Hospital, Technical University Dresden, Fetscherstrasse 74, 01307, Dresden, Germany. Maja.v.d.Hagen@uniklinikum-dresden.de
Kaindl
Angela M
AM
Koehler
Kathrin
K
Mitzscherling
Petra
P
Häusler
Hans-Jürgen
HJ
Stoltenburg-Didinger
Gisela
G
Huebner
Angela
A
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
D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases