Article
Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea.
Yonsei medical journal - 1 Jan 2021
Lee Jung Hwan, Park Hyung Jun, Seong Moon Woo, Park Sung Sup, Choi Young Chul
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the face to the legs in an asymmetric pattern. In about 5% of patients with FSHD, no D4Z4 repeat contraction on chromosome 4q35 is observed; this disease entity is called FSHD2....
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