CAJ | 학술논문

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。
목적：보도1례RYR1기인돌변인기적선천성기섬유류형불균(CFTD)병례，가강대상염색체은성유전적RYR1기인돌변상관표형적인식。방법수집1례CFTD환자적림상표현、실험실검사、영상학표현、기육병리이급기인검측결과，결합문헌복습진행분석토론。결과환자위년경녀성，자유출현안외기마비，체육성적차。체격검사견검형협장、고악궁등다충선천성체정，기장력저하，면기、태두기급사지근단기기력차。혈기산격매정상。기전도시기원성손해。기육MRI견반건기부분수루。기육병리견Ⅰ형섬유상대교소(>12%)。이대측서시RYR1기인복합잡합돌변(c.C11314T，p.R3772W/c.A164G，p.Q55R)。Western blot검측시환자RYR1단백표체여정상대조비교명현강저。결론본병례계국내수차보도RYR1기인돌변인기적CFTD。CFTD속선천성기병，기육활검유조우병리진단，기인검측대최종진단이급유전방식학정구유결정의의。
Aim To investigate autosomal recessive inheritedRYR1 myopathy by reporting a case with congenital ifber type disproportion (CFTD).Methods A patient with progressive blepharoptosis and athletic weakness since childhood was described. The clinical data, laboratory test results, muscle pathology and gene screening were reported and the literature was reviewed.Results A 24-year-old woman complained of progressive blepharoptosis and eyeball ifxation for 12 months. She was poor at physical exercise since her toddler stage. Physical examination revealed some clues of congenital myopathy such as long face, high-arched palate, scapular winging, strephenopodia and tendon contracture. Facial and proximal muscle weaknesses were detected as well. The serum creatine kinase (CK) level was normal. Electromyogram (EMG) showed inactive myopathic changes. Muscle MRI showed the semitendinosus was partly damaged. Muscle pathology demonstrated that type 1 fibers were at least 12% smaller than the mean diameter of type 2 ifbers in the absence of other signiifcant pathologic ifndings. Compound heterozygous mutations of RYR1 gene (c.C11314T, p.R3772W/c.A164G.p.Q55R) were identiifed in this case. The latter one is a novel mutation. Her parents were demonstrated as carriers. Western blot showed that ryanodine receptor 1 was markedly reduced compared with the normal control.Conclusion This is the ifrst report of Chinese CFTD due to autosomal recessive inheritedRYR1 mutations. CFTD is deifned on the basis of its typical pathogenic features. Gene analysis is crucial in diagnosing and conifrming the inherited pattern.