title: MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement.
abstract: Dynamin 2 has recently been recognized as a causative gene for the autosomal dominant form of centronuclear myopathy (dominant centronuclear myopathy). Here we report an affected father and daughter with dynamin 2 related AD CNM with predominantly distal onset of weakness. In addition to the diagnostic central location of myonuclei the muscle biopsy also showed core-like structures. Muscle MRI in the lower leg revealed prominent involvement of the soleus, but also of the gastrocnemius and the tibialis anterior whereas in the thigh there was a consistent pattern of selective involvement of adductor longus, semimembranosus, biceps femoris, rectus femoris, and vastus intermedius with relative sparing of vastus lateralis and medialis, sartorius, gracilis, and partly of the semitendinosus. These characteristic findings on muscle MRI confirm similar findings reported for CT imaging in dynamin 2 related dominant centronuclear myopathy and may help to differentiate this disorder from central core disease and other myopathies.
authors.affiliation: Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
authors.forename: Joachim
authors.initials: J
authors.lastname: Schessl
authors.forename: Livija
authors.initials: L
authors.lastname: Medne
authors.forename: Ying
authors.initials: Y
authors.lastname: Hu
authors.forename: Yaqun
authors.initials: Y
authors.lastname: Zou
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Brown
authors.forename: Jason T
authors.initials: JT
authors.lastname: Huse
authors.forename: Drew A
authors.initials: DA
authors.lastname: Torigian
authors.forename: Heinz
authors.initials: H
authors.lastname: Jungbluth
authors.forename: Hans-Hilmar
authors.initials: HH
authors.lastname: Goebel
authors.forename: Carsten G
authors.initials: CG
authors.lastname: Bönnemann
mesh_terms: D000328:Adult; D034285:Dynamin II / Q000235:genetics* / Q000378:metabolism; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology*
chemical_list: D034285:Dynamin II