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1.
Article in Chinese | WPRIM | ID: wpr-510041

ABSTRACT

Duchenne muscular dystrophy is the most prevalent muscular dystrophy caused by dystrophin gene mutations. In the central nervous systerm, there are at least six dystrophin isoforms, in which Dp140 is closely associated with cognitive impairment. This paper re-viewed the discovery, structure, gene location, detection methods and function of Dp140.

2.
Article in Chinese | WPRIM | ID: wpr-496361

ABSTRACT

Objective To investigate the cognitive condition in patients with Duchenne muscular dystrophy (DMD). Methods Wechsler Intelligence Scale for Children IV (WISC-IV) was administered for 127 DMD patients aged 6~14 years from April, 2013 to December, 2015. The verbal intelligence quotient (VIQ), performance intelligence quotient (PIQ) and full-scale intelligence quotient (FSIQ) scores were analyzed. Results The FSIQ, VIQ and PIQ were (93.2±18.6), (91.5±18.9), and (96.6±19.5), respectively, which were lower than 100 in normal population (P<0.001), and higher than that of patients abroad in the previous studies (P<0.001). There were 13 patients (10.24%) whose scores of FSIQ were less than 70. The VIQ-PIQ discrepancy score was (-5.0 ± 16.6). Conclusion About 1/10 of Chinese DMD pa-tients impaire in cognitive function, which is significantly lower than that abroad. VIQ is more affected than PIQ.

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