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Fig. 2 | BMC Neurology

Fig. 2

From: Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

Fig. 2

Brain magnetic resonance imaging of the proband III-3 (a) and the patient III-2(b) in Family 1. Left: axial T1-weighted image showing atrophy of the cerebellar vermis. Right: mid-line sagittal T2-weighted image showing cerebellar atrophy, particularly evident in the vermis and hemispheres, with enlargement of the fourth ventricle. Chromatogram and conservation of p.E1064X mutation (c) and p.S1628X mutation (d) within SETX. The upper panel depicts the reference sequence. The lower panel represents heterozygous mutated sequence

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BMC Neurology

ISSN: 1471-2377

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