Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene

H Tomimitsu; K Ishikawa; J Shimizu; N Ohkoshi; I Kanazawa; H Mizusawa

doi:10.1212/wnl.59.3.451

Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene

Neurology. 2002 Aug 13;59(3):451-4. doi: 10.1212/wnl.59.3.451.

Authors

H Tomimitsu¹, K Ishikawa, J Shimizu, N Ohkoshi, I Kanazawa, H Mizusawa

Affiliation

¹ Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan.

PMID: 12177386
DOI: 10.1212/wnl.59.3.451

Abstract

The authors present three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, the causative gene for hereditary inclusion body myopathy, in Japanese patients with distal myopathy with rimmed vacuoles. Seven out of nine patients had homozygous V572L mutation, one was a compound heterozygote with C303V and V572L mutations, and the remaining patient bore homozygous A631V mutation.

MeSH terms

Adolescent
Adult
Carbohydrate Epimerases / genetics*
Cohort Studies
Escherichia coli Proteins*
Female
Humans
Male
Multienzyme Complexes / genetics
Muscular Dystrophies / enzymology
Muscular Dystrophies / genetics*
Muscular Dystrophies / pathology
Mutation, Missense / genetics*
Myositis, Inclusion Body / enzymology
Myositis, Inclusion Body / genetics*
Myositis, Inclusion Body / pathology
Phosphotransferases (Alcohol Group Acceptor) / genetics*
Vacuoles / enzymology
Vacuoles / genetics*
Vacuoles / pathology

Substances

Escherichia coli Proteins
Multienzyme Complexes
Phosphotransferases (Alcohol Group Acceptor)
N-acylmannosamine kinase
Carbohydrate Epimerases
UDP acetylglucosamine-2-epimerase
wecB protein, E coli