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Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis

 Jiyeol Yoon  ;  Se Hoon Kim  ;  Chang-Seok Ki  ;  Min-Jung Kwon  ;  Mie-Jin Lim  ;  Seong-Ryul Kwon  ;  Kowoon Joo  ;  Chang-Gi Moon  ;  Won Park 
 Journal of Korean Medical Science, Vol.26(4) : 587-591, 2011 
Journal Title
 Journal of Korean Medical Science 
Issue Date
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.
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1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Se Hoon(김세훈) ORCID logo https://orcid.org/0000-0001-7516-7372
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