1.Methods: Pedigree investigation and pathological examination in the muscle biopsy of the proband and his aunt were carried out.
方法：对该家系进行家系调查，对先证者及其姑母进行肌活检组织学观察。
2.In contrast, direct DNA sequencing requires only a single sample from the proband.
相比之下，直接测序只需要被检测者的血样。
3.Methods: The clinic data and the laboratory results were analyzed in the proband and the other people in the family.
方法：对先证者及其家族的临床资料、实验室检查进行分析。
4.Index case --- The family member affected with a genetic disorder who is the first to draw attention to a pedigree. See proband.
一个家系中最先被发现具有某个特异性状的个体。参见先证者。
5.The Study on the Impact of Onset Age of the Type 2 Diabetes Proband on the Genetic Phenotype
2型糖尿病先证者发病年龄对遗传表型影响的研究