Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

The β-tropomyosin gene encodes a component of the sarcomeric thin filament. Rod-shaped dimers of tropomyosin regulate actin-myosin interactions and β-tropomyosin mutations have been associated with nemaline myopathy, cap myopathy, Escobar syndrome and distal arthrogryposis types 1A and 2B. In this s...

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Bibliografische gegevens
Hoofdauteurs: Davidson, Ann E., Siddiqui, Fazeel M., Lopez, Michael A., Lunt, Peter, Carlson, Heather A., Moore, Brian E., Love, Seth, Born, Donald E., Roper, Helen, Majumdar, Anirban, Jayadev, Suman, Underhill, Hunter R., Smith, Corrine O., von der Hagen, Maja, Hubner, Angela, Jardine, Philip, Merrison, Andria, Curtis, Elizabeth, Cullup, Thomas, Jungbluth, Heinz, Cox, Mary O., Winder, Thomas L., Abdel Salam, Hossam, Li, Jun Z., Moore, Steven A., Dowling, James J.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2013
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Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3572924/
https://ncbi.nlm.nih.gov/pubmed/23413262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws344
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