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单词 Facioscapulohumeral muscular dystrophy
释义

Facioscapulohumeral muscular dystrophy

英语例句库

Objective:To find out the development of facioscapulohumeral muscular dystrophy in a large kindred over the past 20 years.

目的了解面肩肱型肌营养不良症一例大家系的发展形势,寻求防治方法。

中文百科

面肩胛肱型肌营养不良症

面肩胛肱型肌营养不良症（英语：Facioscapulohumeral muscular dystrophy, Landouzy-Dejerine, FSHMD, FSHD or FSH），先影响面部、肩胛骨和上臂骨骼肌的常染色体显性肌肉萎缩症。一般认为它是第三大骨骼肌遗传病。2008年进行的一项罕见疾病分析表明FSHD是最常见的肌肉萎缩症，发病率7/100,000。

英语百科

Facioscapulohumeral muscular dystrophy 面肩胛肱型肌营养不良症

An illustration by Peter Jones PhD describing the complex interplay of genetics and epigenetics in FSHD.
A schematic of D4Z4 locus on chromosome 4: The D4Z4 locus is in the sub-telomeric region of 4q. The figure shows a three repeat D4Z4 array. CEN indicates the centromeric end and TEL indicates the telomeric end. The DUX4 gene is shown as a gray rectangle with exon 1 and exon 2 in each repeat and exon 3 in the pLAM region telomeric to the last partial repeat (numbered 1, 2, and 3). PAS indicates the polyadenylation site on the permissive 4qA allele that is not present on the non-permissive 4qB allele or on chromosome 10. The arrowed lines represent: Blue, DBE-T transcripts (2.4, 4.4, and 9.8 kb) found in FSHD cells and reported to de-repress DUX4 expression; Black and red, transcripts in the sense and antisense direction were detected in both FSHD and control cells and might originate from the mapped sense promoters (black) and anti-sense promoters (red) with dashed lines indicating areas that might be degraded or produce si-like small RNAs. NDE, non-deleted element identified as the transcription start site for the DBE-T transcripts.[9]

Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)—originally named Landouzy-Dejerine—is a usually autosomal dominant inherited form of muscular dystrophy (MD) that initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral). FSHD is the third most common genetic disease of skeletal muscle. Orpha.net lists the prevalence as 4/100,000 while a 2014 population-based study in the Netherlands reported a significantly higher prevalence of 12 in 100,000.
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更新时间：2025/6/21 11:12:44