Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series.
Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series.
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DOI：
10.4414/smw.2006.11213
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发表时间：
2006-03
影响因子：
2.9
通讯作者：
G. Ramelli;F. Joncourt;J. Luetschg;J. Weis;M. Tolnay;J. Burgunder
中科院分区：
文献类型：
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作者：
G. Ramelli;F. Joncourt;J. Luetschg;J. Weis;M. Tolnay;J. Burgunder
杜氏肌营养不良症 (DMD) 和贝克尔肌营养不良症 (BMD) 都是由 X 连锁肌营养不良蛋白基因突变引起的。 BMD 患者比 DMD 患者在临床上受到的影响更小。我们介绍了五名被诊断为 BMD 的患者。首先，是两个同卵双胞胎，其抗肌萎缩蛋白基因的外显子 48 被删除，他们从三岁起就经历了明显的肌肉痉挛。对这两个双胞胎的肌肉活检进行的组织病理学检查仅显示非常轻微的肌纤维改变。其次，两兄弟在临床表现上表现出明显的、不寻常的家族内变异，并且在肌营养不良蛋白基因中表现出新的点突变。最后，第五个男孩的抗肌营养不良蛋白基因出现了新的点突变。尽管他在 15 岁时就没有临床症状，并且肌肉活检仅显示出非常轻微的肌病体征，但血清肌酸激酶 (CK) 水平多年来一直显着升高。总而言之，这些病例增加了 BMD 临床、组织病理学和分子遗传学发现的显着差异。
Both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations of the X-linked dystrophin gene. BMD patients are less affected clinically than DMD patients. We present five patients with a diagnosis of BMD. First, two identical twins, with a deletion of exon 48 of the dystrophin gene, who experienced prominent muscle cramps from the age of three. The histopathological examination of muscle biopsies of these two twins revealed only very slight muscle fiber alterations. Second, two brothers who displayed marked, unusual intrafamilial variability of the clinical picture as well as showing a new point mutation in the dystrophin gene. And finally, a fifth boy who displayed a new point mutation in the dystrophin gene. Although he was clinically asymptomatic at the age of 15 and muscle biopsy only showed very minor myopathic signs, serum Creatine Kinase (CK) levels had been considerably elevated for years. Taken together, these cases add to the spectrum of marked discrepancies in clinical, histopathological and molecular genetic findings in BMD.