先天性肌强直一家系的临床特点及CLCN1基因突变筛查

目的 探讨先天性肌强直一家系的临床特点及CLCN1基因突变情况。方法 对一先天性肌强直家系中的22例患者的临床资料进行分析。结果 该家系5代68名成员，连续4代共24例发病，男女均有累及；多于婴幼儿期起病，肌强直见于所有患者，16例伴有肌肥大。全部患者肌酶学检查及血电解质正常；2例肌电图检查见自发性肌强直电位；先证者肌活检见肌纤维排列疏松，大小不一，横纹不清，部分肌纤维增生与肥大，肌细胞轻度变性，周围有少量炎性细胞浸润；3例基因检测未发现CLCN1基因的23对外显子突变。结论 该家系为常染色体显性遗传的Thomsen病，患者均有典型的临床表现。CLCN1基因23对外显子筛查未发现突变，表明可能存在遗传异质性。

Clinical festures and CLCN1 gene mutation screen on a myotonia congenital kindred

Objective To investigate the clinical festures and CLCN1 gene mutation screen on a myotonia congenital kindred.Methods The clinical data of 22 patients in the myotonia congenital kindred were analysed. Results There were total 68 people in 5 generations, including 24 patients in 4 generations .Both male and female were suffered. All patientes of this kindred showed myotonia with onset the illness from the infant, and 16 cases accompanied with hypermyotrophy.The levels of creatases and dielectric in serum were normal in all the cases. Spontaneous myotonic electric potential were observed on electromyography( EMG ) in 2 cases.The proband was found in light microscope by biopsy that muscle fibers arranged loosenly , size of them mismatched , transverse striation was unclear and some of them was hyperplasia and hypertrophy. Muscle cells degenerated gently with a few inflammatory cells infiltration. No mutation was found in the whole 23 extrons of CLCN1 gene in the 3 patients.Conclusions This kindred accords with the autosomal dominant heredity form Thomsen's disease. The affected numbers have the typical clinical characteristics. No mutation is found when 23 extrons of CLCN1 gene screened in the patients which indicate the genetic heterogeneity may be exist in this kindred.