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对19个成员罹患面-肩-肱型进行性肌营养不良症的一个家系调查及染色体检查结果说明此病系常染色体显性遗传,为位于染色体上的致病基因致病。患者血清中CPK及LDH_1增高,提出LDH_1可能是检测这类疾病基因携带者的标志之一。
A pedigree investigation of 19 patients with facial-shoulder-bradycardia muscular dystrophy and chromosomal examination revealed that the disease is autosomal dominant and causes disease-causing genes located on chromosomes. Patients with serum CPK and LDH_1 increased, suggesting that LDH_1 may be one of the markers for detecting carriers of these disease genes.