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首页> 外文期刊>Neuromuscular disorders: NMD >Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.
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Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.

机译：贝克尔的肌营养不良症加重了面肩肱型肌营养不良症-双重麻烦解释了一种非典型的表型。

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摘要

We report a 12-year-old patient with mental impairment and proximal muscle weakness who had marked involvement of the shoulder girdle and facial muscles. CK levels were above 7000 U/l, multiplex PCR dystrophin gene deletion screening was negative. Further molecular studies revealed shortened D4Z4 fragments in the patient and his asymptomatic father, establishing the diagnosis of facioscapulohumeral muscular dystrophy (FSHD). Under the assumption of a second disease mechanism, a muscle biopsy was performed which revealed marked dystrophin deficiency. Eventually, a donor splice site mutation (c.4071+1 G>T) was found by direct sequencing of the dystrophin gene in the patient and his mother and confirmed the diagnosis of Becker's muscular dystrophy along with FSHD.
机译：我们报告了一名12岁的精神障碍和近端肌无力的患者，该患者明显累及了肩带和面部肌肉。 CK水平高于7000 U / l，多重PCR肌营养不良蛋白基因缺失筛选阴性。进一步的分子研究显示，患者及其无症状父亲中的D4Z4片段缩短，从而确定了肩cap肱型肌营养不良症（FSHD）的诊断。在第二种疾病机制的假设下，进行了肌肉活检，发现肌营养不良蛋白明显缺乏。最终，通过对患者及其母亲的肌营养不良蛋白基因进行直接测序，发现了供体剪接位点突变（c.4071 + 1 G> T），并证实了贝克尔氏肌营养不良症和FSHD的诊断。

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