Original paper
Histopathologic Progression and a Novel Mutation in a Child With Nemaline Myopathy
Abstract
Nemaline myopathy is a clinically heterogeneous congenital myopathy caused by mutations in at least 6 genes related to thin filaments. Histologically, they show a characteristic if not homogeneous picture of nemaline rods, essential for the diagnosis. However, little is known regarding the development and progression of muscle histopathologic changes in nemaline myopathy. Results of muscle biopsies at 7 weeks of age and at 15 months of age from...
Paper Details
Title
Histopathologic Progression and a Novel Mutation in a Child With Nemaline Myopathy
Published Date
Jul 1, 2008
Journal
Volume
23
Issue
7
Pages
813 - 817
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Notes
History