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Abstract：
According to existing reports, mutations in the slow tropomyosin gene (TPM3) may lead to congenital fiber-type disproportion (CFTD), nemaline myopathy (NM) and cap myopathy (CD). They are all congenital myopathies and are associated with clinical, pathological and genetic heterogeneity. A ten-year-old girl with scoliosis was unable to wean from mechanical ventilation after total intravenous anesthesia. The girl has scoliosis, respiratory insufficiency, motion delay and muscle weakness; her younger brother has a similar physiology but does not have scoliosis or respiratory insufficiency, and her parents are healthy. We conducted genetic testing and found a c.502C > G (p.R168G) heterozygous mutation in the family. This mutation originated from the father and was autosomal dominant. Muscle biopsy results indicated that no special structures were present, and the type I fiber ratio was not notably high compared to previous reports. Although the family members have the same mutations, their clinical manifestations are quite different.
摘要：
根据现有报道,慢原肌球蛋白基因（TPM3）的突变可能导致先天性纤维型不相称（CFTD），线虫肌病（NM）和帽肌病（CD）。它们都是先天性肌病，与临床有关，病理和遗传异质性。一个十岁的脊柱侧弯女孩在全静脉麻醉后无法戒断机械通气。这个女孩有脊柱侧弯,呼吸功能不全,运动延迟和肌肉无力；她的弟弟有类似的生理机能，但没有脊柱侧弯或呼吸功能不全，她的父母都很健康.我们进行了基因测试，发现了一个c.502C>G（p。R168G)家族中的杂合突变。该突变起源于父亲并且是常染色体显性的。肌肉活检结果显示没有特殊结构存在，与以前的报道相比，I型纤维比例并不高。虽然家族成员有相同的突变,他们的临床表现完全不同。
