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目的:报道一个腓骨肌萎缩症2型(CM T 2)大家系。方法:对家系中所有成员进行详细的体格检查,6名患者进行肌电图和神经传导速度检查,先证者进行腓肠神经活检,采用高度多态性短串联重复(STR)法检测PM P 22基因大片段重复突变,对PM P 22、M PZ和NEFL基因编码区致病突变,采用聚合酶链式反应-单链构象多态(PCR-SSCP)技术结合DNA测序进行检测。最后对该家系进行全基因组扫描。结果:除了2名患者同时有下肢近端和远端肌肉萎缩和无力外,所有患者都表现为不同程度的以下肢为重的肢体远端肌肉萎缩和无力,轻到中度的感觉障碍。6名患者正中神经运动神经传导速度都正常,肌电图检查均可见巨大运动单元电位、纤颤电位和正锐波,腓肠神经活检证实为轴突型周围神经病。STR法未检测到PM P 22基因大片段重复突变,PCR-SSCP技术未检测到PM P 22、M PZ和NEFL基因编码区致病突变。全基因组扫描最终将其疾病基因定位在12q24.2-q24.3。结论:检查结果符合CM T 2型的诊断,该家系是一种罕见的CM T 2亚型。
PURPOSE: To report a pedigree of Charcot-Myaldystrophy type 2 (CM T 2). Methods: A detailed physical examination was performed on all the members of the pedigree. Six patients underwent electromyography and nerve conduction velocity examinations. Superselective sural nerve biopsy was performed on the probands. PM (High Density Polymorphism) tandem repeat (STR) 22 gene mutations in the coding region of PM P22, M PZ and NEFL gene mutations were detected by polymerase chain reaction - single-strand conformation polymorphism (PCR-SSCP) combined with DNA sequencing. Finally, the whole family was scanned by genome. RESULTS: Except for 2 patients with both proximal and distal muscular dystrophy and weakness in the lower extremities, all patients presented with varying degrees of distal muscle weakness and weakness, mild to moderate sensory disturbances of the lower extremities. The median nerve motor nerve conduction velocity was normal in all 6 patients. A large motor unit potential, fibrillation potential and positive sharp wave were found on EMG examination. The sural nerve biopsy confirmed axonal peripheral neuropathy. STR method did not detect PM P 22 gene large fragment of repeated mutations, PCR-SSCP technology did not detect PM P22, M PZ and NEFL gene coding region pathogenic mutations. Genome-wide scans eventually locate its disease gene at 12q24.2-q24.3. CONCLUSIONS: The findings are consistent with the diagnosis of CM T 2, a rare CM T 2 subtype.