Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations. In this study, we report a novel GNE homozygous point mutation c.1834T>G that results in amino acid substitution of cysteine 612 to glutamine in an Iranian patient. This mutation is located in exon 10 within the kinase domain of the protein.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235102 | PMC |
Publication Analysis
Top Keywords
gne gene
8
iranian patient
8
hereditary inclusion
8
inclusion body
8
body myopathy
8
novel missense
4
missense mutation
4
mutation gne
4
gene iranian
4
patient hereditary
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!