J Korean Neurol Assoc.
1993 Mar;11(1):121-126.
A Family of Facioscapulohumeral Muscular Dystrophy
- Affiliations
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- 1Department of Neurology, College of Medicine.
- 2Department of Internal Medicine, College of Medicine.
- 3Department of Neurology, College of Medicine Seoul National University, Korea.
- 4Department of Pathology, College of Medicine Seoul National University, Korea.
Abstract
- Facioscapulohumeral muscular dystrophy (FSHD) is a genetically trarlsmitted benign muscular dystrophy which has autosomal dominant inheritance pattern. It starts anytime within the first 30 years of life, and usually involves the face and shoulder girdle, and finally the pelvic muscles with very slow progression. Authors-report a fanily consisting of a father, two sons and one daughter, who had suffered from exertional dyspnea, weakness of facial muscle and winged scapulae, all wlth a slow progressive course. Two of these patients were biopsied arld confirmed light microscopically and electron microsopically.
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