Glossary
An older diagnostic label commonly used in the literature for FKRP-related limb-girdle muscular dystrophy.
Meaning in FKRP
LGMD2I was the traditional name for a muscular dystrophy phenotype caused by FKRP variants. In newer nomenclature, the same disease area is often labeled LGMDR9. Both names still appear in papers, registries, and clinic notes, so search strategies usually need both terms.
Primary Sources
North American FKRP paper illustrating continued use of the LGMD2I label in genotype-phenotype work.
Modern LGMDR9 natural-history cohort that helps relate older and newer terminology.
Related Content
Guide
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.
Guide
FKRP-related disease is usually discussed as an autosomal recessive condition, but interpretation still depends on variant classification, clinical context, and how individual findings fit the wider phenotype.
Paper Summary
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.
Glossary
The current limb-girdle muscular dystrophy naming convention most often used for later-onset FKRP-related disease.
Glossary
The relationship between a genetic variant pattern and the clinical features seen in a person or group.
Glossary
A cell-surface protein that needs proper glycosylation to help muscle and other tissues stay structurally stable.