대칭 및 비대칭 근위축을 함께 보인 얼굴어깨위팔근육디스트로피 환자
Both Symmetric and Asymmetric Muscle Atrophies in a Patient with Facioscapulohumeral Muscular Dystrophy
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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.
Abstract
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.
참고문헌 (10)
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