先天性肌强直性营养不良患者骨骼肌的CTG重复序列长度及组织学 findings。（这里“findings”可能需要结合上下文进一步明确其准确意思，比如“发现”“表现”等）

CTG repeat size and histologic findings of skeletal muscle from patients with congenital myotonic dystrophy.

作者信息

Tachi N, Kozuka N, Ohya K, Chiba S, Kikuchi K

机构信息

School of Health Sciences, Sapporo Medical University, Department of Pediatrics, Japan.

出版信息

J Child Neurol. 1996 Nov;11(6):430-2. doi: 10.1177/088307389601100602.

DOI:10.1177/088307389601100602

PMID:9120218

Abstract

An approximate correlation has been demonstrated between the degree of CTG repeat expansion and clinical severity among myotonic dystrophy patients. Congenital myotonic dystrophy, which is the most severe form of the disease, has the largest size of CTG repeat. Muscle immaturity is a characteristic finding in congenital myotonic dystrophy muscle. We compared the CTG repeat size and histologic findings of skeletal muscle from patients with congenital myotonic dystrophy. An 8.6 kb or 9.8 kb plus an expanding band ranging from 15 kb to 17.5 kb was observed in muscle from five patients with congenital myotonic dystrophy by Southern blot analysis using EcoRI-digested DNAs probed with p5B1.4. There was no correlation between immaturity of skeletal muscle and the degree of CTG repeat expansion on skeletal muscle. Undetermined maternal factors may have an important role in the cause of immaturity of muscle in congenital myotonic dystrophy patients.

摘要

强直性肌营养不良患者中，CTG重复序列扩增程度与临床严重程度之间已证实存在近似相关性。先天性强直性肌营养不良是该疾病最严重的形式，其CTG重复序列长度最大。肌肉发育不成熟是先天性强直性肌营养不良肌肉的一个特征性表现。我们比较了先天性强直性肌营养不良患者骨骼肌的CTG重复序列长度和组织学表现。通过使用经EcoRI消化并用p5B1.4探针检测的DNA进行Southern印迹分析，在5例先天性强直性肌营养不良患者的肌肉中观察到8.6 kb或9.8 kb加上一个范围从15 kb到17.5 kb的扩增条带。骨骼肌发育不成熟与骨骼肌CTG重复序列扩增程度之间无相关性。未确定的母体因素可能在先天性强直性肌营养不良患者肌肉发育不成熟的病因中起重要作用。