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- W4254328330 abstract "Facioscapulohumeral dystrophy (FSHD) is one of the most common of the muscular dystrophies, especially in adults. The clinical presentation is stereotyped, and more than 95% of individuals have the same underlying genetic abnormality, FSHD1A. In these individuals there is linkage to chromosome 4q35, with truncation of the number of large (3.3kb) D4Z4 repeats. This is now used as a clinical diagnostic test. A small number of families appear to have another, as yet undetermined, genetic abnormality." @default.
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- W4254328330 date "2004-11-01" @default.
- W4254328330 modified "2023-10-18" @default.
- W4254328330 doi "https://doi.org/10.1016/s0960-8966(04)00200-7" @default.
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