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Fig. 2 | Journal of Translational Medicine

Fig. 2

From: Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

Fig. 2

MRI images from subject II:4. a T2-weighted coronal slide showing normal brain parenchyma including brain stem, the inner ears and the vestibulocochlear nerves. b T1-weighted transversal slide of the dorsal spine where flattening of the spinal cord can be seen. c T2-weighted sagittal slide showing cervical kyphosis as well as cerebellar and cervical atrophy. d Detail of the sagittal slide to show the cerebellar atrophy more clearly

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Journal of Translational Medicine

ISSN: 1479-5876

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