Recent advance of Marinesco-Sj?gren syndrome / 中华神经医学杂志
Chinese Journal of Neuromedicine
; (12): 1183-1187, 2023.
Article
de Zh
| WPRIM
| ID: wpr-1035936
Bibliothèque responsable:
WPRO
ABSTRACT
Marinesco-Sj?gren syndrome (MSS), also known as hereditary ataxia-dwarf-mental retardation syndrome, is a rare autosomal recessive ataxia syndrome. This article reviews the recent advance in clinic characteristics, pathogenic gene mutation sites, pathogenesis and clinic diagnosis and treatment of MSS, in order to improve clinicians' understanding of the disease and diagnosis and treatment level, and reduce the missed diagnosis and misdiagnosis of the disease.
Texte intégral:
1
Indice:
WPRIM
langue:
Zh
Texte intégral:
Chinese Journal of Neuromedicine
Année:
2023
Type:
Article