Topic Hub
Diagnosis
Use this hub when readers need help connecting evolving diagnostic terms, clinical framing, and the evidence base behind them.
Guides
Start with the site-level reference pages that define this topic.
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.
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
For Families
This page is the family-friendly entry point into the FKRP site. It is designed to help non-specialists understand the main ideas quickly, know which questions are worth bringing to clinic, and move from confusion toward a structured understanding of the condition.
Guide
For Clinicians
This page is a clinician-facing orientation route through the FKRP site. It is designed to support rapid review by focusing on the disease spectrum, monitoring domains, and source-linked follow-up pages rather than broad generic neuromuscular background.
Papers
Use the paper summaries for dated evidence and limitations.
Paper Summary
Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations
A congenital FKRP case report describing severe eye and brain involvement alongside a comparison with published cases.
Paper Summary
Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I
Retrospective report of self-reported myoglobinuria and muscle pain in a 26-person FKRP-related LGMD2I cohort.
Paper Summary
LGMD2I in a North American population
A genetic screening study identifying FKRP-related LGMD in two North American referral cohorts.
Paper Summary
The phenotype of limb-girdle muscular dystrophy type 2I
An early FKRP cohort describing respiratory and cardiac involvement. A July 2003 correction is recorded, but its contents remain unverified here.
Glossary
Use the terminology layer to anchor naming and search language.
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.