MYOFIBRILLAR AND DISTAL MYOPATHIES
Abstract
GNE myopathy is an autosomal recessive disorder characterized by distal muscle weakness as well as the relative sparing of quadriceps muscle. The affected gene, GNE, encodes a bifunctional enzyme that catalyzes the first steps in the biosynthetic pathway of 5-N-acetylneuraminic acid (Neu5Ac or sialic acid). A diagnosis of GNE myopathy is based on a combination of clinical and pathological evidence and confirmed by genetic test. Features observed...
Paper Details
Title
MYOFIBRILLAR AND DISTAL MYOPATHIES
Published Date
Oct 1, 2018
Journal
Volume
28
Pages
S106 - S106
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