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

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

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-o...

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Bibliographic Details
Main Authors: Haoyue Xu, Hang Liu, Tao Chen, Bo Song, Jin Zhu, Xing Liu, Ming Li, Cong Luo
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2021-09-01
Series:Genes and Diseases
Subjects:
Congenital myopathies
Heterogeneity
Muscle biopsy
Mutation
Therapy
TPM3
Online Access:http://www.sciencedirect.com/science/article/pii/S2352304220300180

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http://www.sciencedirect.com/science/article/pii/S2352304220300180

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