Research advances in limb-girdle muscular dystrophy type 2Q.
- Author:
Min ZHANG
1
;
Dan LAN
Author Information
1. Department of Pediatrics, First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China. land6785@163.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Muscular Dystrophies, Limb-Girdle;
Mutation;
Phenotype
- From:
Chinese Journal of Contemporary Pediatrics
2019;21(8):839-844
- CountryChina
- Language:Chinese
-
Abstract:
Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies with predominantly proximal muscular weakness, and some genes associated with this disease have been identified at present. LGMD type 2Q (LGMD2Q) is a subtype of LGMD and is associated with PLEC gene mutation. Major phenotypes of PLEC gene mutation include epidermolysis bullosa with late-onset muscular dystrophy and epidermolysis bullosa with other lesions. LGMD2Q without skin lesions is rarely reported. This article reviews the pathogenic gene PLEC and clinical manifestations of LGMD2Q, so as to deepen the understanding of the pathogenic gene and phenotype of LGMD2Q.
