title: Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis.
abstract: Carrier woman of Duchenne muscular dystrophy (DMD) can mimic the inflammatory myositis in presenting symptoms. Two diseases should be differentiated by the clinical history, muscle biopsy and genetic study. There are few reports in which both histochemical and genetic study showed the possible link of overlapping inflammatory pathophysiology with dystrophinopathy. We report a 40-yr-old woman who presented with subacute proximal muscle weakness and high serum level of creatine kinase. She had a history of Graves' disease and fluctuation of serum liver aminotransferase without definite cause. MRI, EMG and NCV were compatible with proximal muscle myopathy. Muscle biopsy on vastus lateralis showed suspicious perifascicular atrophy and infiltration of mono-macrophage lineage cells complicating the diagnosis. Dystrophin staining showed heterogeneous diverse findings from normal to interrupted mosaic pattern. Multiple ligation probe amplification and X chromosome inactivation test confirmed DMD gene deletion mutation in exon 44 and highly skewed X inactivation.
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Inha University Hospital, 27 Inhang-ro, Jung-gu, Incheon, Korea.
authors.forename: Jiyeol
authors.initials: J
authors.lastname: Yoon
authors.forename: Se Hoon
authors.initials: SH
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Min-Jung
authors.initials: MJ
authors.lastname: Kwon
authors.forename: Mie-Jin
authors.initials: MJ
authors.lastname: Lim
authors.forename: Seong-Ryul
authors.initials: SR
authors.lastname: Kwon
authors.forename: Kowoon
authors.initials: K
authors.lastname: Joo
authors.forename: Chang-Gi
authors.initials: CG
authors.lastname: Moon
authors.forename: Won
authors.initials: W
authors.lastname: Park
mesh_terms: D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000378:metabolism; D004452:Echocardiography; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D018908:Muscle Weakness; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009220:Myositis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D000637:Transaminases / Q000097:blood
chemical_list: D016189:Dystrophin; D000637:Transaminases; D003402:Creatine Kinase