Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein-Reference-Cited by-同舟云学术

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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Published:2004-03-21 Issue:4 Volume:36 Page:377-381
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Watts Giles D J,Wymer Jill,Kovach Margaret J,Mehta Sarju G,Mumm Steven,Darvish Daniel,Pestronk Alan,Whyte Michael P,Kimonis Virginia E

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1332.pdf

Reference29 articles.

1. Kimonis, V.E. et al. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet. Med. 2, 232–241 (2000).

2. Kovach, M.J. et al. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol. Genet. Metab. 74, 458–475 (2001).

3. Eisenberg, I. et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat. Genet. 29, 83–87 (2001).

4. Seppala, R., Lehto, V.P. & Gahl, W.A. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. Am. J. Hum. Genet. 64, 1563–1569 (1999).

5. Watts, G.D.J., Thorne, M., Kovach, M.J., Pestronk, A. & Kimonis, V.E. Clinical and Genetic Heterogeneity in Chromosome 9p associated Hereditary Inclusion Body Myopathy: Exclusion of GNE and three other candidate genes. Neuromuscul. Disord. 13, 559–567 (2003).

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