MYOFIBRILLAR AND DISTAL MYOPATHIES

Volume: 28, Pages: S106 - S106
Published: Oct 1, 2018
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
Volume
28
Pages
S106 - S106
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