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Evidence Summary

LGMD2I in a North American population

Genotype-phenotype paper showing that FKRP-related LGMD can be present and clinically varied in North American cohorts, not only in founder populations from Northern Europe.

cohortGeneticsDiagnosisClinicians

Citation: Kang PB, Feener CA, Estrella E, et al. LGMD2I in a North American population. BMC Musculoskelet Disord. 2007;8:115.

Key Takeaway

The paper supports testing FKRP early in appropriate LGMD workups because clinically mild and more severe courses can exist in the same broad diagnostic space.

Main findings

  • Screening of two North American LGMD cohorts identified seven patients with FKRP-related LGMD2I, including six with a milder Becker-like phenotype and one with earlier onset and likely more severe disease.
  • The common c.826C>A variant appeared in six patients, reinforcing its diagnostic importance beyond the traditional Northern European context.
  • The authors concluded that FKRP-related LGMD should be considered early during evaluation of LGMD in North American populations.

Practical relevance

  • Useful for clinicians and researchers because it links molecular confirmation to the problem of variable clinical presentation.
  • Helps explain why broad FKRP terminology and careful differential diagnosis matter on a public-facing reference site.

Limitations and cautions

  • The cohort was small and designed around case identification, not prospective natural-history follow-up.
  • The paper does not provide the depth of longitudinal cardiopulmonary surveillance data needed for monitoring decisions.
  • It reflects diagnostic practice from 2007, before broader modern sequencing workflows became routine.

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Glossary

Genotype-phenotype correlation

The relationship between a genetic variant pattern and the clinical features seen in a person or group.

Guide

What Is FKRP?

FKRP is a gene involved in alpha-dystroglycan glycosylation. Pathogenic variants in FKRP can cause a spectrum of muscular dystrophy-dystroglycanopathies, ranging from severe congenital presentations to later-onset limb-girdle disease.