Research Paper: 2012 Tonduti

Date Published : 08/29/2012

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

Abstract:

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.

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Research Paper: 2013 Lemmens

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Research Paper: 2012 Garel