Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy

Myofibrillar myopathies (MFMs) are rare genetic and slowly progressive neuromuscular disorders. Several pathogenic mutations have been reported in MFM-related genes including DES, CRYAB, MYOT, LDB3 or ZASP, FLNC, BAG3, FHL1 and DNAJB6. Although MFMs is commonly inherited in an autosomal dominant man...

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Detalles Bibliográficos
Autores principales: Ebrahimzadeh-Vesal, Reza, Teymoori, Atieh, Dourandish, Ali Mohammad, Azimi-Nezhad, Mohsen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303478/
https://www.ncbi.nlm.nih.gov/pubmed/30591934
http://dx.doi.org/10.1016/j.gendis.2018.09.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303478/
https://www.ncbi.nlm.nih.gov/pubmed/30591934
http://dx.doi.org/10.1016/j.gendis.2018.09.004

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