人类面肩肱型肌营养不良症的分子遗传学及肌营养不良小鼠模型
The molecular genetics of human facioscapulohumeral muscular dystrophy and the myodystrophy mouse model.
作者信息
Mathews K D, Mills K A
机构信息
Department of Pediatrics, University of Iowa, Iowa City 52242, USA.
出版信息
Curr Opin Neurol. 1996 Oct;9(5):394-9.
Facioscapulohumeral dystrophy is an autosomal dominant muscular dystrophy, the gene for which is localized to 4q35. It appears to be caused by deletion of tandem repeats that do not contain an expressed sequence. One current hypothesis is that the deletion affects expression of a centromeric gene (not yet identified) through a position effect. The mouse mutant, myodystrophy (myd), is a candidate model for facioscapulohumeral dystrophy. Myd has a progressive muscular dystrophy and maps to a segment of mouse chromosome 8 that is syntenic with human 4q31-4q35.
面肩肱型肌营养不良症是一种常染色体显性肌营养不良症，其基因定位于4q35。它似乎是由不含表达序列的串联重复序列缺失引起的。目前的一种假说认为，这种缺失通过位置效应影响着丝粒基因（尚未确定）的表达。小鼠突变体肌营养不良症（myd）是面肩肱型肌营养不良症的候选模型。myd具有进行性肌营养不良症，定位于小鼠8号染色体上与人类4q31 - 4q35同线的一段区域。
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