Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene
- 13 August 2002
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 59 (3) , 451-454
- https://doi.org/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.Keywords
This publication has 8 references indexed in Scilit:
- The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathyNature Genetics, 2001
- A Bifunctional Enzyme Catalyzes the First Two Steps inN-Acetylneuraminic Acid Biosynthesis of Rat LiverJournal of Biological Chemistry, 1997
- Various types of herediary inclusion body myopathies map to chromosome 9p1‐q1Annals of Neurology, 1997
- Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9Annals of Neurology, 1997
- Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1Human Molecular Genetics, 1996
- Muscle fiber degeneration in distal myopathy with rimmed vacuole formationActa Neuropathologica, 1995
- Rimmed vacuolar distal myopathy: a clinical, electrophysiological, histopathological and computed tomographic study of seven casesZeitschrift für Neurologie, 1987
- Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formationJournal of the Neurological Sciences, 1981