The clinical characteristics and molecular genetics of infantile neuroaxonal dystrophy: The current research progress / 中国医师杂志
Journal of Chinese Physician
;
(12): 1121-1124, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-610809
ABSTRACT
Infantile neuroaxonal dystrophy (INAD) is a rare autosome-recessive disease characterized by progressive motor and cognitive regression.The PLA2G6 gene is its causative gene,which encodes calcium-independent phospholipase A2 enzyme (iPLA2-VIA).The diagnosis of INAD is difficult because of its clinical heterogeneity,and the rate of misdiagnosis is high.The purpose of this study is to describe the clinical characteristics,molecular genetics,treatment and prognosis of INAD to improve the acknowledgement of INAD in medical workers and to help make an early diagnosis of INAD.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Prognostic study
/
Screening study
Language:
Chinese
Journal:
Journal of Chinese Physician
Year:
2017
Type:
Article
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