Article

A novel mouse model of creatine transporter deficiency

2015-01-22

Abstract excerpt

Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and behavioral disturbances, language and speech impairment ( OMIM #300352). CCDS1 is still an untreatable pathology that can be very invalidating for patients and caregivers. Only t...

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Literature Corpus work: 5385c8d3-6050-5916-b254-be7b587bd4c9
DOI: 10.12688/f1000research.5369.2

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