Clinical festures and CLCN1 gene mutation screen on a myotonia congenital kindred / 临床神经病学杂志

ABSTRACT

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.