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Skeletal Muscle Contractile Gene (TNNT3, MYH3, TPM2) Mutations Not Found in Vertical Talus or Clubfoot

Arthrogryposis presents with lower limb contractures that resemble clubfoot and/or vertical talus. Recently, mutations in skeletal muscle contractile genes MYH3 (myosin heavy chain 3), TNNT3 (troponin T3), and TPM2 (tropomyosin 2) were identified in patients with distal arthrogryposis DA2A (Freeman-...

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Autors principals: Gurnett, Christina A., Alaee, Farhang, Desruisseau, David, Boehm, Stephanie, Dobbs, Matthew B.
Format: Artigo
Idioma:Inglês
Publicat: Springer-Verlag 2009
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2664426/
https://ncbi.nlm.nih.gov/pubmed/19142688
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11999-008-0694-5
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