DYSF基因突变相关肢带型肌营养不良病例1例
Journal: Basic Medical Theory Research DOI: 10.12238/bmtr.v8i1.18549
Abstract
肢带型肌营养不良2型是一种以进行性的肌肉无力和萎缩为特征的肌营养不良的一种疾病。本例患者为28岁年轻男性,因“双下肢后侧肌肉疼痛6月余”为主诉入院。患者6月前查ALT、AST、磷酸肌酸激酶升高,随访期间肝功能及肌酸激酶均超过正常范围。追问病史,患者自述10年前体检时发现肝功能异常,曾至华山医院行肝炎病毒及肝穿刺检查,结果均未见异常。入院时四肢肌力V级,四肢肌张力正常,四肢活动无明显受限。肌肉MRI提示两侧大腿多组肌肉水肿样表现,两侧腓肠肌内侧头、外侧头及比目鱼肌异常信号灶。肌肉活检结果：肌纤维变性,小灶血管周围少量淋巴细胞浸润。基因检测提示DYSF基因(NM-003494.4)第47外显子存在c.5231G>A变异,第48外显子存在c.5385_5393del变异。
Keywords
肢带型肌营养不良；DYSF基因突变；基因检测
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