- Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease
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Kim YH, Lee R, Yoo HW, Yum MS, Bae SH, Chung SC, Park YM, Son JS
- KMID: 1094269
- J Korean Med Sci.
- 2011 Jul;26(7):951-953.
- doi: 10.3346/jkms.2011.26.7.951
Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and... -
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- Diffusion-Weighted MR Imaging of Unusual White Matter Lesion in a Patient with Menkes Disease
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Lee ES, Ryoo JW, Choi DS, Cho JM, Kwon SH, Shin HS
- KMID: 753871
- Korean J Radiol.
- 2007 Feb;8(1):82-85.
- doi: 10.3348/kjr.2007.8.1.82
We report here on the diffusion-weighted imaging of unusual white matter lesions in a case of Menkes disease. On the initial MR imaging, the white matter lesions were localized in... -
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