Article
Serum neural cell adhesion molecule is hyposialylated in hereditary inclusion body myopathy.
Genetic testing and molecular biomarkers - 1 May 2012
Valles-Ayoub Yadira, Esfandiarifard Saghi, Sinai Pedram, Carbajo Rosangela, Khokher Zeshan, No Daniel, Pietruszka Marvin, Darvish Babak, Kakkis Emil, Darvish Daniel
Abstract excerpt
Hereditary inclusion body myopathy (HIBM) is a young-adult onset autosomal recessive disorder caused by a hypomorphic rate limiting enzyme of sialic acid biosynthesis. The enzyme is UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, and is encoded by the GNE gene. HIBM causes slowly progressive muscle weakness and atrophy. Patients are typically diagnosed at 20-30 years of age, and most patients are...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.