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Facioscapulohumeral muscular dystrophy 1
- ... ClinicalTrials.gov FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC; FSHD2 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 PubMed de Greef JC, Lemmers RJ, Camano ...
- ... hypomethylated, with too few methyl groups attached. In facioscapulohumeral muscular dystrophy type 1 (FSHD1), hypomethylation occurs because the D4Z4 region contains ...
- ... disease in people with the other type of facioscapulohumeral muscular dystrophy, FSHD1. FSHD1 results when the D4Z4 region is abnormally shortened (contracted), containing between 1 and 10 repeats instead of the usual 11 ...
- ... chromosome 4, which contains the DUX4 gene, cause facioscapulohumeral muscular dystrophy. This disorder is characterized by muscle weakness and wasting (atrophy) that worsens slowly over time. Two types of the disorder have been described: type 1 (FSHD1) and type 2 (FSHD2). Both types result ...