Original paper
G.P.265
Abstract
Nebulin (NEB) is a sarcomeric structural protein. Mutations in NEB genes particularly cause autosomal recessive nemaline myopathy (NM) and core-rod myopathy. Clinical presentations range from a severe neonatal form to a mild adult-onset form as part of the different diagnosis of distal myopathy. We describe the clinical, histopathological, and molecular findings of three patients with different phenotypes of NEB gene mutations. Case 1: A...
Paper Details
Title
G.P.265
Published Date
Oct 1, 2014
Journal
Volume
24
Issue
9-10
Pages
896 - 897
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Notes
History