Tawil R, Figlewicz D A, Griggs R C, Weiffenbach B
Department of Neurology, University of Rochester School of Medicine and Dentistry, NY 14642, USA.
Ann Neurol. 1998 Mar;43(3):279-82. doi: 10.1002/ana.410430303.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited diseases of muscle. Until recently, FSHD had received little attention because of its relatively benign course and the perception that it represented a syndrome rather than a distinct myopathy. Research interest into this disease was reignited with the demonstration of linkage of FSHD to chromosome 4q35 in 1990. Clinical and molecular genetic research in FSHD has since helped define it as a distinct clinical entity, outlined its natural history, and defined the primary molecular defect associated with the condition. FSHD is now known to be associated with large deletions of variable size on chromosome 4q35. These deletions, however, do not appear to disrupt a transcribed gene but are thought to interfere with the expression of a gene or genes located proximal to the deletions. These observations complicate the search for the FSHD gene but also imply the presence of a potentially novel molecular pathogenesis.
面肩肱型肌营养不良症（FSHD）是最常见的遗传性肌肉疾病之一。直到最近，FSHD因其相对良性的病程以及被认为是一种综合征而非一种独特的肌病而很少受到关注。1990年FSHD与4号染色体长臂35区（4q35）的连锁关系被证实后，对这种疾病的研究兴趣被重新点燃。自那时以来，FSHD的临床和分子遗传学研究有助于将其定义为一种独特的临床实体，勾勒出其自然病史，并确定了与该疾病相关的主要分子缺陷。现在已知FSHD与4q35上大小可变的大片段缺失有关。然而，这些缺失似乎并未破坏一个转录基因，而是被认为会干扰位于缺失近端的一个或多个基因的表达。这些观察结果使寻找FSHD基因变得复杂，但也暗示了一种潜在的新分子发病机制的存在。
