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myotilin Mutation found in second pedigree with LGMD1A.

Publication ,  Journal Article
Hauser, MA; Conde, CB; Kowaljow, V; Zeppa, G; Taratuto, AL; Torian, UM; Vance, J; Pericak-Vance, MA; Speer, MC; Rosa, AL
Published in: Am J Hum Genet
December 2002

Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000]) is an autosomal dominant form of muscular dystrophy characterized by adult onset of proximal weakness progressing to distal muscle weakness. We have reported elsewhere a mutation in the myotilin gene in a large, North American family of German descent. Here, we report the mutation screening of an additional 86 families with a variety of neuromuscular pathologies. We have identified a new myotilin mutation in an Argentinian pedigree with LGMD1 that is predicted to result in the conversion of serine 55 to phenylalanine (S55F). This mutation has not been found in 392 control chromosomes and is located in the unique N-terminal domain of myotilin, only two residues from the T57I mutation reported elsewhere. Both T57I and S55F are located outside the alpha-actinin and gamma-filamin binding sites within myotilin. The identification of two independent pedigrees with the same disease, each bearing a different mutation in the same gene, has long been the gold standard for establishing a causal relationship between defects in a gene and the resultant disease. As a description of the second known pedigree with LGMD1A, this finding constitutes that gold standard of proof that mutations in the myotilin gene cause LGMD1A.

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Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

December 2002

Volume

71

Issue

6

Start / End Page

1428 / 1432

Location

United States

Related Subject Headings

  • Phenotype
  • Pedigree
  • Mutation, Missense
  • Muscular Dystrophies
  • Muscle Proteins
  • Molecular Sequence Data
  • Microfilament Proteins
  • Male
  • Humans
  • Genotype
 

Citation

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Hauser, M. A., Conde, C. B., Kowaljow, V., Zeppa, G., Taratuto, A. L., Torian, U. M., … Rosa, A. L. (2002). myotilin Mutation found in second pedigree with LGMD1A. Am J Hum Genet, 71(6), 1428–1432. https://doi.org/10.1086/344532
Hauser, Michael A., Cecilia B. Conde, Valeria Kowaljow, Guillermo Zeppa, Ana L. Taratuto, Udana M. Torian, Jeffery Vance, Margaret A. Pericak-Vance, Marcy C. Speer, and Alberto L. Rosa. “myotilin Mutation found in second pedigree with LGMD1A.Am J Hum Genet 71, no. 6 (December 2002): 1428–32. https://doi.org/10.1086/344532.
Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, et al. myotilin Mutation found in second pedigree with LGMD1A. Am J Hum Genet. 2002 Dec;71(6):1428–32.
Hauser, Michael A., et al. “myotilin Mutation found in second pedigree with LGMD1A.Am J Hum Genet, vol. 71, no. 6, Dec. 2002, pp. 1428–32. Pubmed, doi:10.1086/344532.
Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, Vance J, Pericak-Vance MA, Speer MC, Rosa AL. myotilin Mutation found in second pedigree with LGMD1A. Am J Hum Genet. 2002 Dec;71(6):1428–1432.
Journal cover image

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

December 2002

Volume

71

Issue

6

Start / End Page

1428 / 1432

Location

United States

Related Subject Headings

  • Phenotype
  • Pedigree
  • Mutation, Missense
  • Muscular Dystrophies
  • Muscle Proteins
  • Molecular Sequence Data
  • Microfilament Proteins
  • Male
  • Humans
  • Genotype