Nemaline myopathy: A report of four cases

Annals of Indian Academy of Neurology

关键词: Nemaline rods;    myopathy;    Z disc;   

DOI  :  

来源: DOAJ

【 摘 要 】

Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital myopathies characterized by the formation of nemaline rods within muscle fibers. Congenital, childhood, and adult forms with hypotonia, proximal muscle and facial weakness, and skeletal deformities have been described. The diagnostic hallmark is the presence of nemaline rods on modified Gomori′s trichrome staining. We report the clinical and morphological features of four patients with nemaline rod myopathy: congenital classic (2), childhood (1), and adult (1), and speculate on the disease′s evolution.

【 授权许可】

Unknown