Topic Hub
Genetics
Use this hub to move from FKRP gene basics into variant interpretation, naming conventions, and the papers that support that framing.
Guides
Start with the site-level reference pages that define this topic.
Guide
Genetics
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.
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.
Papers
Use the paper summaries for dated evidence and limitations.
Paper Summary
Fukutin-Related Protein: From Pathology to Treatments
Review article mapping FKRP biology, disease mechanisms, model systems, and the treatment approaches that were emerging by 2021.
Paper 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.
Glossary
Use the terminology layer to anchor naming and search language.
Glossary
Alpha-dystroglycan
A cell-surface protein that needs proper glycosylation to help muscle and other tissues stay structurally stable.
Glossary
Dystroglycanopathy
A group of disorders caused by problems in alpha-dystroglycan glycosylation, including diseases linked to FKRP.
Glossary
Genotype-phenotype correlation
The relationship between a genetic variant pattern and the clinical features seen in a person or group.
Glossary
LGMD2I
An older diagnostic label commonly used in the literature for FKRP-related limb-girdle muscular dystrophy.
Glossary
LGMDR9
The current limb-girdle muscular dystrophy naming convention most often used for later-onset FKRP-related disease.