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目的报道1例RYR1基因突变引起的先天性肌纤维类型不均(CFTD)病例,加强对常染色体隐性遗传的RYR1基因突变相关表型的认识。方法收集1例CFTD患者的临床表现、实验室检查、影像学表现、肌肉病理以及基因检测结果,结合文献复习进行分析讨论。结果患者为年轻女性,自幼出现眼外肌麻痹,体育成绩差。体格检查见脸型狭长、高腭弓等多种先天性体征,肌张力低下,面肌、抬头肌及四肢近端肌肌力差。血肌酸激酶正常。肌电图示肌源性损害。肌肉MRI见半腱肌部分受累。肌肉病理见Ⅰ型纤维相对较小(>12%)。二代测序示RYR1基因复合杂合突变(c.C11314T,p.R3772W/c.A164G,p.Q55R)。Western blot检测示患者RYR1蛋白表达与正常对照比较明显降低。结论本病例系国内首次报道RYR1基因突变引起的CFTD。CFTD属先天性肌病,肌肉活检有助于病理诊断,基因检测对最终诊断以及遗传方式确定具有决定意义。
OBJECTIVE: To report one case of congenital myofibrillar type (CFTD) caused by mutation of RYR1 gene and to reinforce the understanding of the autosomal recessive RYR1 gene mutation related phenotype. Methods The clinical manifestations, laboratory tests, imaging findings, muscle pathology and gene test results of 1 CFTD patient were collected and analyzed with the review of the literature. Results The patient was a young woman who had developed extraocular muscle paralysis and had poor athletic performance. Physical examination, see the face of narrow, high palate bow and other congenital signs of low muscle tension, facial muscles, raised muscles and proximal limb muscle weakness. Serum creatine kinase normal. Myoelectricity shows myogenic damage. Muscle MRI see partial semitendinosus involvement. Type I fiber muscle pathology is relatively small (> 12%). Second-generation sequencing revealed RYR1 gene complex heterozygous mutation (c.C11314T, p.R3772W / c.A164G, p.Q55R). Western blot showed that RYR1 protein expression was significantly lower than the normal control. Conclusion This case is the first report of CFTD caused by RYR1 gene mutation in China. CFTD is a congenital myopathy, muscle biopsy contribute to the pathological diagnosis, genetic testing for the final diagnosis and genetic determination is decisive.