Desmin splice variants causing cardiac and skeletal myopathy

Desmin myopathy is a hereditary or sporadic cardiac and skeletal myopathy characterised by intracytoplasmic accumulation of desmin reactive deposits in muscle cells. We have characterised novel splice site mutations in the gene desmin resulting in deletion of the entire exon 3 during the pre-mRNA sp...

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Main Authors: Park, K., Dalakas, M., Goebel, H., Ferrans, V., Semino-Mora, C., Litvak, S., Takeda, K., Goldfarb, L.
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2000
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734475/
https://ncbi.nlm.nih.gov/pubmed/11073539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.11.851
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