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Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

Publication ,  Journal Article
Senderek, J; Garvey, SM; Krieger, M; Guergueltcheva, V; Urtizberea, A; Roos, A; Elbracht, M; Stendel, C; Tournev, I; Mihailova, V; Feit, H ...
Published in: Am J Hum Genet
April 2009

Distal myopathies represent a heterogeneous group of inherited skeletal muscle disorders. One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with dysphagia and dysphonia (vocal cord and pharyngeal weakness with distal myopathy [VCPDM]), has been mapped to chromosome 5q31 in a North American pedigree. Here, we report the identification of a second large VCPDM family of Bulgarian descent and fine mapping of the critical interval. Sequencing of positional candidate genes revealed precisely the same nonconservative S85C missense mutation affecting an interspecies conserved residue in the MATR3 gene in both families. MATR3 is expressed in skeletal muscle and encodes matrin 3, a component of the nuclear matrix, which is a proteinaceous network that extends throughout the nucleus. Different disease related haplotype signatures in the two families provided evidence that two independent mutational events at the same position in MATR3 cause VCPDM. Our data establish proof of principle that the nuclear matrix is crucial for normal skeletal muscle structure and function and put VCPDM on the growing list of monogenic disorders associated with the nuclear proteome.

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Published In

Am J Hum Genet

DOI

EISSN

1537-6605

Publication Date

April 2009

Volume

84

Issue

4

Start / End Page

511 / 518

Location

United States

Related Subject Headings

  • Syndrome
  • Sequence Homology, Amino Acid
  • RNA-Binding Proteins
  • Pedigree
  • Nuclear Matrix-Associated Proteins
  • Nuclear Matrix
  • Mutation, Missense
  • Muscle, Skeletal
  • Molecular Sequence Data
  • Middle Aged
 

Citation

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Senderek, J., Garvey, S. M., Krieger, M., Guergueltcheva, V., Urtizberea, A., Roos, A., … Jackson, C. E. (2009). Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet, 84(4), 511–518. https://doi.org/10.1016/j.ajhg.2009.03.006
Senderek, Jan, Sean M. Garvey, Michael Krieger, Velina Guergueltcheva, Andoni Urtizberea, Andreas Roos, Miriam Elbracht, et al. “Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.Am J Hum Genet 84, no. 4 (April 2009): 511–18. https://doi.org/10.1016/j.ajhg.2009.03.006.
Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, et al. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet. 2009 Apr;84(4):511–8.
Senderek, Jan, et al. “Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.Am J Hum Genet, vol. 84, no. 4, Apr. 2009, pp. 511–18. Pubmed, doi:10.1016/j.ajhg.2009.03.006.
Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet. 2009 Apr;84(4):511–518.
Journal cover image

Published In

Am J Hum Genet

DOI

EISSN

1537-6605

Publication Date

April 2009

Volume

84

Issue

4

Start / End Page

511 / 518

Location

United States

Related Subject Headings

  • Syndrome
  • Sequence Homology, Amino Acid
  • RNA-Binding Proteins
  • Pedigree
  • Nuclear Matrix-Associated Proteins
  • Nuclear Matrix
  • Mutation, Missense
  • Muscle, Skeletal
  • Molecular Sequence Data
  • Middle Aged