Clinical and immune pathological characteristics of skeletal muscle in UCMD with sarcolemma-specific collagen Ⅵ deficiency
- VernacularTitle:Ⅵ型胶原肌膜选择性缺失型Ullrich型先天性肌营养不良临床及免疫病理特点
- Author:
Jun LU
;
Wenhua ZHU
;
Jiahong LU
;
Chongbo ZHAO
;
Jie LIN
;
Jianying XI
- Publication Type:Journal Article
- Keywords:
Ullrich congenital muscular dystrophy;
collagen Ⅵ;
sarcolemma-specific collagen Ⅵ deficiency;
biopsy;
double immunofluorescence
- From:
Fudan University Journal of Medical Sciences
2009;36(4):454-456,460
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical and immune pathological features of Ullrich congenital muscular dystrophy (UCMD) with sarcolemma-specific collagen Ⅵ deficiency (SSCD). Methods The clinical aspects of 2 patients with SSCD were analyzed and the muscle specimens from them were studied by immunofluorescence. Results SSCD patients were clinically characterized by neonatal hypotonia with proximal contractures and distal hyperlaxity at birth or early infancy. Immunofluorescence staining revealed partial deficiency of collagen Ⅵ. Double immunofluorescence staining revealed sarcolemma-specific deficiency of collagen Ⅵ, while collagen Ⅳ intact in thesarcolemma. Conclusions The clinical picture and severity of UCMD with SSCD are similar to the cases with collagen Ⅵ complete deficiency. The proximal contractures and distal hyperlaxity are the clinical hallmarks of both types. Sarcolemma-specific collagen Ⅵ deficiency can be better demonstrated by double immunofluorescence staining.
