Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration.
نویسندگان
چکیده
Fig. 1. (a) Patients with compound heterozygous PANK2 gene mutations and their family members. The blackened squares denote the number of patients. (b) ‘Eye of the tiger sign’ of patients PKAN-02, 03 and 04 in T2-magnetic resonance imaging (MRI) image. We identified six Chinese patients with sporadic PKAN, all of whom revealed the typical ‘eye of the tiger’ sign upon brain magnetic resonance imaging (MRI). PANK2 mutational analyses were conducted in all patients and their available family members. Informed consents were obtained and blood samples were collected. The genotypes and clinical
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ورودعنوان ژورنال:
- Clinical genetics
دوره 87 1 شماره
صفحات -
تاریخ انتشار 2015