Research Paper: 

2012 Tonduti

Date Published : 

08/29/2012

Summary

COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers

Excerpt

Background: Mutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific.
Case Presentation: Here, we report three new cases that, like five patients we previously described, show the novel common finding of raised creatine kinase (CK) concentration.
Conclusion Raised: CK concentration, in addition to intracranial calcification, is to be considered another useful pointer to a final diagnosis of COL4A1-related disease.

COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers
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