One case of nemaline myopathy and literature review / 临床儿科杂志

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.