Facioscapulohumeral Muscular Dystrophy
作者： Charis L. Himeda , Charles P. Emerson
DOI: 10.1016/B978-0-12-381510-1.00069-7
关键词: Early disease 、 Biology 、 Facioscapulohumeral muscular dystrophy 、 Neuromuscular disease 、 Epigenetics 、 Subtelomere 、 Chromatin 、 Disease 、 Neuroscience 、 Candidate gene
摘要: Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited neuromuscular disease, with an epigenetic basis linked to contractions or hypomethylation of chromosome 4q subtelomere. Efforts understand chromatin alterations in this region have yielded several interesting models disorder. This chapter summarizes genetic and etiology FSHD search for candidate genes, emphasis on recent discoveries. It also seeks highlight current therapeutic strategies future directions field. In particular, there a need large, well-controlled studies identify consistent biomarkers early disease pathology.
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