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Tropomyosin pp 143-157 | Cite as

Tropomyosins in Skeletal Muscle Diseases

  • Anthony J. Kee
  • Edna C. Hardeman
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 644)

Abstract

A number of congenital muscle diseases and disorders are caused by mutations in genes that encode the proteins present in or associated with the thin filaments of the muscle sarcomere.1 These genes include α-skeletal actin (ACTA1), β-tropomyosin (TPM2), α-tropomyosin slow (TPM3), nebulin (NEB), troponin I fast (TNNI2), troponin T slow (TNNT1), troponin T fast (TNNT3) and cofilin (CFL2). Mutations in two of the four tropomyosin (Tm) genes, TPM2 and TPM3, result in at least three different skeletal muscle diseases and one disorder as distinguished by the presence of specific clinical features and/or structural abnormalities—nemaline myopathy (TPM2 and TPM3)2,3 distal arthrogryposis (TPM2)4 cap disease (TPM2)5 and congenital fiber type disproportion (TPM3)6. These disease have overlapping clinical features and pathologies and there are cases of family members who have the same mutation, but different diseases (Table 1). The relatively recent discovery of nonmuscle or cytoskeletal Tms in skeletal muscle7 adds to this complexity since it is now possible that a disease-causing mutation could be in a striated isoform and a cytoskeletal isoform both present in muscle.

Keywords

Muscle Weakness Congenital Myopathy Nemaline Myopathy Skeletal Muscle Disease Distal Arthrogryposis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Landes Bioscience and Springer Science+Business Media 2008

Authors and Affiliations

  1. 1.Muscle Development Unit Children’s Medical Research InstituteUniversity of SydneySydneyAustralia
  2. 2.Faculty of MedicineUniversity of SydneySydneyAustralia
  3. 3.Department of Anatomy School of Medical Sciences Faculty of MedicineUniversity of New South WalesSydneyAustralia

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