The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications

Xu, HY; Liu, H; Chen, T; Song, B; Zhu, J; Liu, X; Li, M; Luo, C

Li, M; Luo, C (corresponding author), Chongqing Med Univ, Chongqing Childrens Hosp, Dept Orthoped, 136 Zhong Shan Er Lu, Chongqing 400014, Peoples R China.

GENES & DISEASES, 2021; 8 (5): 715

Abstract

According to existing reports, mutations in the slow tropomyosin gene (TPM3) may lead to congenital fiber-type disproportion (CFTD), nemaline myopathy......

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