Characters of clinical and pathological and the expressions of emerin protein and STA gene on Emery-Dreifuss muscular dystrophy:report of one case
- VernacularTitle:Emery-Dreifuss肌营养不良症的临床、病理特征及emerin蛋白、STA基因的表达(附1例报告)
- Author:
Shufen XU
;
Shihe LIN
;
Xinmei JIANG
- Publication Type:Journal Article
- Keywords:
Emery-Dreifuss muscular dystrophy;
muscle atrophy;
joint contractures;
Emerin protein;
STA gene
- From:
Journal of Clinical Neurology
1988;0(02):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate clinical manifestation and pathological changes and the expressions of Emerin protein and STA gene of Emery-Dreifuss muscular dystrophy (EDMD).Methods The clinical features and STA gene detection from one patient with EDMD were analyzed retrospectively. Results The onset age of this patient was in early childhood. The four limbs were progressive muscle weakness and muscular atrophy. There were joint contractures and cardiac involvement in the early stage. The serum muscle enzymes increased slightly. The pathological changes in muscles showed that the sizes of muscle fibers were different, the fibers became spherical and some fibers were replaced by fat. Because of normal spinal anterior horn cells and sural nerves, neurogenic muscular atrophy might be ruled out. Emerin protein could not be tested in striated muscle and cardiac muscle. No mutation of STA gene was found in this case. Conclusions Emery-Dreifuss muscular dystrophy is one particular type of muscular dystrophy. It is characterized with joint contractures and cardiac involvement in the early stage. Emerin protein is deficient in EDMD. There is no mutation of STA gene in sporadic EDMD.
