Research advances in limb-girdle muscular dystrophy type 2Q / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 839-844, 2019.
Article
in Zh
| WPRIM
| ID: wpr-775096
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Phenotype
/
Muscular Dystrophies, Limb-Girdle
/
Mutation
Limits:
Humans
Language:
Zh
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2019
Type:
Article