One case of nemaline myopathy and literature review
10.3969/j.issn.1000-3606.2009.11.012
- VernacularTitle:线状体肌病1例报告并文献复习
- Author:
Wei YANG
;
Guangmin NONG
- Publication Type:Journal Article
- Keywords:
nemaline;
myopathy;
biopsy;
electron microscopy
- From:
Journal of Clinical Pediatrics
2009;(11):1047-1050
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate pathogenesis, clinical and pathological feature of a case of nemaline myopathy and review of relevant researches. Methods A ease of an 8-year-old girl with muscle weakness and her clinical presentation, family history, changes of serum enzymology and EMG, characteristic of light and electron microscopic studies were described. The earlier literature and new genetic findings concerning these muscle abnormalities are also briefly summarized. Results Nemaline myopathy is diagonosed by clinical manifestation and observed result of electron microscopy. Conclusions Muscle biopsy is the only way to diagnose nemaline myopathy and electron microscopy plays an important role in diagnosing it.
