LGMD2I in a North American population

BMC Musculoskelet Disord. 2007 Nov 24;8:115. doi: 10.1186/1471-2474-8-115.


Background: There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I).

Methods: We screened the FKRP gene in two cohorts totaling 87 patients with the LGMD phenotype.

Results: The c.826C>A, p.L276I mutation was present in six patients and a compound heterozygote mutation in a seventh patient. Six patients had a mild LGMD2I phenotype, which resembles that of Becker muscular dystrophy. The other patient had onset before the age of 3 years, and thus may follow a more severe course.

Conclusion: These findings suggest that LGMD2I may be common in certain North American populations. This diagnosis should be considered early in the evaluation of LGMD.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Humans
  • Male
  • Muscular Dystrophies / epidemiology*
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies, Limb-Girdle / epidemiology
  • Muscular Dystrophies, Limb-Girdle / genetics
  • Mutation
  • North America / epidemiology
  • Pentosyltransferases
  • Proteins / genetics*


  • Proteins
  • FKRP protein, human
  • Pentosyltransferases