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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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2013
Konular:
Original Articles
Online Erişim: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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