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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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.
التنسيق: Artigo
اللغة:Inglês
منشور في: Oxford University Press 2013
الموضوعات:
Original Articles
الوصول للمادة أونلاين: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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