A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure

Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins, including αB-crystallin (CRYAB), a small heat shoc...

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Detalles Bibliográficos
Autores principales: Fichna, Jakub P., Potulska-Chromik, Anna, Miszta, Przemysław, Redowicz, Maria Jolanta, Kaminska, Anna M., Zekanowski, Cezary, Filipek, Sławomir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Regular Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5124346/
https://www.ncbi.nlm.nih.gov/pubmed/27904835
http://dx.doi.org/10.1016/j.bbacli.2016.11.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5124346/
https://www.ncbi.nlm.nih.gov/pubmed/27904835
http://dx.doi.org/10.1016/j.bbacli.2016.11.004

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