Skip to main content
Journal cover image

Myotilin is mutated in limb girdle muscular dystrophy 1A.

Publication ,  Journal Article
Hauser, MA; Horrigan, SK; Salmikangas, P; Torian, UM; Viles, KD; Dancel, R; Tim, RW; Taivainen, A; Bartoloni, L; Gilchrist, JM; Stajich, JM ...
Published in: Hum Mol Genet
September 1, 2000

We have identified a mutation in the myotilin gene in a large North American family of German descent expressing an autosomal dominant form of limb girdle muscular dystrophy (LGMD1A). We have previously mapped this gene to 5q31. Symptoms of this adult onset disease are progressive weakness of the hip and shoulder girdles, as well as a distinctive dysarthric pattern of speech. Muscle of affected individuals shows degeneration of myofibers, variations in fiber size, fiber splitting, centrally located myonuclei and a large number of autophagic vesicles. Affected muscle also exhibits disorganization and streaming of the Z-line similar to that seen in nemaline myopathy. We have identified a C450T missense mutation in the myotilin gene that is predicted to result in the conversion of residue 57 from threonine to isoleucine. This mutation has not been found in 396 control chromosomes. The mutant allele is transcribed and normal levels of correctly localized myotilin protein are seen in LGMD1A muscle. Myotilin is a sarcomeric protein that binds to alpha-actinin and is localized in the Z-line. The observed missense mutation does not disrupt binding to alpha-actinin.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Hum Mol Genet

DOI

ISSN

0964-6906

Publication Date

September 1, 2000

Volume

9

Issue

14

Start / End Page

2141 / 2147

Location

England

Related Subject Headings

  • Two-Hybrid System Techniques
  • Transcription, Genetic
  • Threonine
  • Sequence Analysis, DNA
  • Protein Binding
  • Polymorphism, Single-Stranded Conformational
  • Mutation, Missense
  • Mutation
  • Muscular Dystrophies
  • Muscle Proteins
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Hauser, M. A., Horrigan, S. K., Salmikangas, P., Torian, U. M., Viles, K. D., Dancel, R., … Speer, M. C. (2000). Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet, 9(14), 2141–2147. https://doi.org/10.1093/hmg/9.14.2141
Hauser, M. A., S. K. Horrigan, P. Salmikangas, U. M. Torian, K. D. Viles, R. Dancel, R. W. Tim, et al. “Myotilin is mutated in limb girdle muscular dystrophy 1A.Hum Mol Genet 9, no. 14 (September 1, 2000): 2141–47. https://doi.org/10.1093/hmg/9.14.2141.
Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000 Sep 1;9(14):2141–7.
Hauser, M. A., et al. “Myotilin is mutated in limb girdle muscular dystrophy 1A.Hum Mol Genet, vol. 9, no. 14, Sept. 2000, pp. 2141–47. Pubmed, doi:10.1093/hmg/9.14.2141.
Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000 Sep 1;9(14):2141–2147.
Journal cover image

Published In

Hum Mol Genet

DOI

ISSN

0964-6906

Publication Date

September 1, 2000

Volume

9

Issue

14

Start / End Page

2141 / 2147

Location

England

Related Subject Headings

  • Two-Hybrid System Techniques
  • Transcription, Genetic
  • Threonine
  • Sequence Analysis, DNA
  • Protein Binding
  • Polymorphism, Single-Stranded Conformational
  • Mutation, Missense
  • Mutation
  • Muscular Dystrophies
  • Muscle Proteins