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KMID : 0860920150170010050
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Journal of the Korean Association EMG-Electrodiagnostic Medicine
2015 Volume.17 No. 1 p.50 ~ p.54
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Both Symmetric Asymmetric Muscle Atrophies in a Patient with Facioscapulohumeral Muscular Dystrophy
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Kim Sang-Beom
Park Jin-Mo
Youn Min-Jung
Yoo Jeong-Hyun
Choi Byung-Ok
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Abstract
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Facioscapulohumeral muscular dystrophy (FSHD) is relevant with repeated contractions in the D4Z4 gene locus on chromosome 4q35. A 14-year-old girl presented asymmetric shoulder-girdle weakness and symmetric bilateral foot drop. We diagnosed her as FSHD using Southern blot analysis, which revealed 14kb EcoRI fragment and 4 repeated D4Z4. Whole body MRI revealed both asymmetric atrophies in trapezius and serratus anterior muscles, and symmetric atrophies in tibialis anterior muscles. We suggest that those findings might expand the clinical spectrum of FSHD.
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KEYWORD
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facioscapulohumeral muscular dystrophy, MRI, asymmetric
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