Role of White Matter Tracts and Gray Matter Centers in X-linked MCT8 Transporter Deficiency, Assessed by Dedicated Magnetic Resonance Imaging and Clinical Correlation Save

Date Added
November 3rd, 2015
PRO Number
Pro00048044
Researcher
Maria Matheus
Keywords
Adolescents, Brain, Children's Health, Healthy Volunteer Studies, Pediatrics
Summary

The purpose of the study is to assess and qualify the clinical phenotype as well as adequately classify the motor component of the X-linked MCT8 transporter deficiency syndrome by performing neurological exams and MRI imaging of subjects with the MCT8 transporter deficiency and MRI imaging of age matching control patients. A total of 12 well-documented MCT8 deficiency patients and 20 age matching control subjects are expected to be recruited over a two year period fo this proposed study.

Institution
MUSC
Recruitment Contact
Corie Lynn
843-792-8874
lynnc@musc.edu

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